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    CCDC91 coiled-coil domain containing 91 [ Homo sapiens (human) ]

    Gene ID: 55297, updated on 2-Nov-2024

    Summary

    Official Symbol
    CCDC91provided by HGNC
    Official Full Name
    coiled-coil domain containing 91provided by HGNC
    Primary source
    HGNC:HGNC:24855
    See related
    Ensembl:ENSG00000123106 MIM:617366; AllianceGenome:HGNC:24855
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p56; HSD8
    Summary
    Predicted to enable identical protein binding activity. Involved in Golgi to lysosome transport. Located in nucleoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 18.7), thyroid (RPKM 8.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC91 in Genome Data Viewer
    Location:
    12p11.22
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (28190456..28550166)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (28062559..28422616)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28343389..28703099)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369710 Neighboring gene uncharacterized LOC107984462 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:28283226-28284425 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27297 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4316 Neighboring gene Sharpr-MPRA regulatory region 4473 Neighboring gene MPRA-validated peak1636 silencer Neighboring gene IFT57 pseudogene 1 Neighboring gene uncharacterized LOC729291 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27354 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6155 Neighboring gene MPRA-validated peak1637 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27393 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27419 Neighboring gene RNA, U4 small nuclear 54, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27646 Neighboring gene RNA, 5S ribosomal pseudogene 355 Neighboring gene MPRA-validated peak1639 silencer Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_27720 and experimental_27723 Neighboring gene ribosomal protein L29 pseudogene 27 Neighboring gene uncharacterized LOC105369711 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:28912143-28912760 Neighboring gene uncharacterized LOC124902907

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11088, DKFZp779L1558

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to lysosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Golgi to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 91
    Names
    GGA-binding partner
    p56 accessory protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330367.2NP_001317296.1  coiled-coil domain-containing protein 91 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) has the same N- and C-termini but is shorter than isoform 1.
      Source sequence(s)
      AK001950, AL570537, AY289196, BC018679, BU739164, CR749586, DA390133, DA696788
      Consensus CDS
      CCDS81675.1
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Related
      ENSP00000440513.1, ENST00000539107.5
    2. NM_001352078.2NP_001339007.1  coiled-coil domain-containing protein 91 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 4-6, and 12, encodes isoform 1.
      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      Consensus CDS
      CCDS8716.1
      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    3. NM_001352079.2NP_001339008.1  coiled-coil domain-containing protein 91 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 1, 3, 5, 6, and 12, encodes isoform 1.
      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      Consensus CDS
      CCDS8716.1
      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    4. NM_001352080.2NP_001339009.1  coiled-coil domain-containing protein 91 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 3, 4, 6, and 12, encodes isoform 1.
      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      Consensus CDS
      CCDS8716.1
      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    5. NM_001352081.2NP_001339010.1  coiled-coil domain-containing protein 91 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 3-5, and 12, encodes isoform 1.
      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      Consensus CDS
      CCDS8716.1
      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    6. NM_001352082.2NP_001339011.1  coiled-coil domain-containing protein 91 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variant 8, encodes isoform 3.
      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      cl25732
      Location:124396
      SMC_N; RecF/RecN/SMC N terminal domain
    7. NM_001352083.2NP_001339012.1  coiled-coil domain-containing protein 91 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variant 7, encodes isoform 3.
      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      cl25732
      Location:124396
      SMC_N; RecF/RecN/SMC N terminal domain
    8. NM_001352084.2NP_001339013.1  coiled-coil domain-containing protein 91 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      cl26511
      Location:135369
      Neuromodulin_N; Gap junction protein N-terminal region
    9. NM_001352086.2NP_001339015.1  coiled-coil domain-containing protein 91 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      Conserved Domains (1) summary
      cl25732
      Location:103375
      SMC_N; RecF/RecN/SMC N terminal domain
    10. NM_001352087.2NP_001339016.1  coiled-coil domain-containing protein 91 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      Conserved Domains (2) summary
      pfam07851
      Location:16123
      TMPIT; TMPIT-like protein
      cl26511
      Location:2242
      Neuromodulin_N; Gap junction protein N-terminal region
    11. NM_001387000.1NP_001373929.1  coiled-coil domain-containing protein 91 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variants 1 and 3-6, encodes isoform 1.
      Source sequence(s)
      AC022079, AC024939, AC046131, AC084754
      Consensus CDS
      CCDS8716.1
      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Related
      ENSP00000438040.1, ENST00000545336.5
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    12. NM_018318.5NP_060788.3  coiled-coil domain-containing protein 91 isoform 1

      See identical proteins and their annotated locations for NP_060788.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 3-6, and 12 all encode the same isoform (1).
      Source sequence(s)
      AK001950, AL570537, AY289196, BC018679, BU739164, DA303929, DA390133
      Consensus CDS
      CCDS8716.1
      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Related
      ENSP00000445660.2, ENST00000536442.6
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      28190456..28550166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429083.1XP_047285039.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
    2. XM_047429090.1XP_047285046.1  coiled-coil domain-containing protein 91 isoform X3

    3. XM_047429081.1XP_047285037.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
    4. XM_047429086.1XP_047285042.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
    5. XM_047429084.1XP_047285040.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
    6. XM_047429089.1XP_047285045.1  coiled-coil domain-containing protein 91 isoform X3

    7. XM_047429082.1XP_047285038.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
    8. XM_047429094.1XP_047285050.1  coiled-coil domain-containing protein 91 isoform X6

    9. XM_024449036.2XP_024304804.1  coiled-coil domain-containing protein 91 isoform X3

      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      cl25732
      Location:124396
      SMC_N; RecF/RecN/SMC N terminal domain
    10. XM_047429085.1XP_047285041.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
    11. XM_017019569.2XP_016875058.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    12. XM_017019572.2XP_016875061.1  coiled-coil domain-containing protein 91 isoform X3

      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      cl25732
      Location:124396
      SMC_N; RecF/RecN/SMC N terminal domain
    13. XM_024449033.2XP_024304801.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    14. XM_024449037.2XP_024304805.1  coiled-coil domain-containing protein 91 isoform X3

      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      cl25732
      Location:124396
      SMC_N; RecF/RecN/SMC N terminal domain
    15. XM_047429093.1XP_047285049.1  coiled-coil domain-containing protein 91 isoform X6

    16. XM_047429092.1XP_047285048.1  coiled-coil domain-containing protein 91 isoform X3

    17. XM_047429096.1XP_047285052.1  coiled-coil domain-containing protein 91 isoform X8

    18. XM_011520735.2XP_011519037.1  coiled-coil domain-containing protein 91 isoform X7

      See identical proteins and their annotated locations for XP_011519037.1

      Conserved Domains (2) summary
      pfam07851
      Location:16123
      TMPIT; TMPIT-like protein
      cl26511
      Location:2242
      Neuromodulin_N; Gap junction protein N-terminal region
    19. XM_047429087.1XP_047285043.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
    20. XM_047429095.1XP_047285051.1  coiled-coil domain-containing protein 91 isoform X6

    21. XM_024449034.2XP_024304802.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
      UniProtKB/TrEMBL
      A0A0A0MTP0
      Conserved Domains (1) summary
      COG1196
      Location:133413
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    22. XM_047429088.1XP_047285044.1  coiled-coil domain-containing protein 91 isoform X1

      UniProtKB/Swiss-Prot
      B3KSA3, C9JR07, Q68D43, Q6IA78, Q7Z6B0, Q8NEN7, Q9NUW9
    23. XM_005253415.1XP_005253472.1  coiled-coil domain-containing protein 91 isoform X5

      See identical proteins and their annotated locations for XP_005253472.1

      UniProtKB/Swiss-Prot
      Q7Z6B0
      Conserved Domains (1) summary
      cl25732
      Location:103375
      SMC_N; RecF/RecN/SMC N terminal domain
    24. XM_024449038.1XP_024304806.1  coiled-coil domain-containing protein 91 isoform X4

      Conserved Domains (1) summary
      cl26511
      Location:116341
      Neuromodulin_N; Gap junction protein N-terminal region
    25. XM_024449035.1XP_024304803.1  coiled-coil domain-containing protein 91 isoform X2

      Conserved Domains (1) summary
      cl25732
      Location:94366
      SMC_N; RecF/RecN/SMC N terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      28062559..28422616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372431.1XP_054228406.1  coiled-coil domain-containing protein 91 isoform X1

    2. XM_054372423.1XP_054228398.1  coiled-coil domain-containing protein 91 isoform X1

    3. XM_054372430.1XP_054228405.1  coiled-coil domain-containing protein 91 isoform X1

    4. XM_054372428.1XP_054228403.1  coiled-coil domain-containing protein 91 isoform X1

    5. XM_054372437.1XP_054228412.1  coiled-coil domain-containing protein 91 isoform X3

    6. XM_054372426.1XP_054228401.1  coiled-coil domain-containing protein 91 isoform X1

    7. XM_054372445.1XP_054228420.1  coiled-coil domain-containing protein 91 isoform X6

    8. XM_054372436.1XP_054228411.1  coiled-coil domain-containing protein 91 isoform X3

    9. XM_054372429.1XP_054228404.1  coiled-coil domain-containing protein 91 isoform X1

    10. XM_054372425.1XP_054228400.1  coiled-coil domain-containing protein 91 isoform X1

    11. XM_054372440.1XP_054228415.1  coiled-coil domain-containing protein 91 isoform X3

    12. XM_054372424.1XP_054228399.1  coiled-coil domain-containing protein 91 isoform X1

    13. XM_054372439.1XP_054228414.1  coiled-coil domain-containing protein 91 isoform X3

    14. XM_054372444.1XP_054228419.1  coiled-coil domain-containing protein 91 isoform X6

    15. XM_054372441.1XP_054228416.1  coiled-coil domain-containing protein 91 isoform X3

    16. XM_054372448.1XP_054228423.1  coiled-coil domain-containing protein 91 isoform X8

    17. XM_054372447.1XP_054228422.1  coiled-coil domain-containing protein 91 isoform X7

    18. XM_054372432.1XP_054228407.1  coiled-coil domain-containing protein 91 isoform X1

    19. XM_054372446.1XP_054228421.1  coiled-coil domain-containing protein 91 isoform X6

    20. XM_054372433.1XP_054228408.1  coiled-coil domain-containing protein 91 isoform X1

    21. XM_054372434.1XP_054228409.1  coiled-coil domain-containing protein 91 isoform X1

    22. XM_054372427.1XP_054228402.1  coiled-coil domain-containing protein 91 isoform X1

    23. XM_054372438.1XP_054228413.1  coiled-coil domain-containing protein 91 isoform X3

    24. XM_054372443.1XP_054228418.1  coiled-coil domain-containing protein 91 isoform X5

    25. XM_054372442.1XP_054228417.1  coiled-coil domain-containing protein 91 isoform X4

    26. XM_054372435.1XP_054228410.1  coiled-coil domain-containing protein 91 isoform X2