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    GPATCH11 G-patch domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 253635, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GPATCH11provided by HGNC
    Official Full Name
    G-patch domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:26768
    See related
    Ensembl:ENSG00000152133 AllianceGenome:HGNC:26768
    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
    CENPY; CCDC75; CENP-Y
    Summary
    Predicted to enable nucleic acid binding activity. Located in kinetochore. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 17.4), testis (RPKM 7.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GPATCH11 in Genome Data Viewer
    Location:
    2p22.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (37084518..37099244)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (37091653..37106376)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37311661..37326387)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene striatin Neighboring gene RNA, U6 small nuclear 577, pseudogene Neighboring gene MPRA-validated peak3656 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:37189639-37189834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11352 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:37230067-37230233 Neighboring gene HEAT repeat containing 5B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15579 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11354 Neighboring gene ARL14EP pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:37416294-37416819 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:37416820-37417344 Neighboring gene sulfotransferase family 6B member 1 Neighboring gene ribosomal protein L31 pseudogene 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identifying novel transcripts and novel genes in the human genome by using novel SAGE tags. Chen J, et al. Proc Natl Acad Sci U S A, 2002 Sep 17. PMID 12213963, Free PMC Article
    2. The protein composition of mitotic chromosomes determined using multiclassifier combinatorial proteomics. Ohta S, et al. Cell, 2010 Sep 3. PMID 20813266, Free PMC Article
    3. The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. Ozyildirim AM, et al. Invest Ophthalmol Vis Sci, 2005 May. PMID 15851553
    4. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. Casabonne D, et al. Haematologica, 2011 Feb. PMID 21048031, Free PMC Article
    5. Mapping the Ku Interactome Using Proximity-Dependent Biotin Identification in Human Cells. Abbasi S, et al. J Proteome Res, 2019 Mar 1. PMID 30585729

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38348

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    G patch domain-containing protein 11
    Names
    centromere protein Y
    coiled-coil domain containing 75
    coiled-coil domain-containing protein 75
    g patch domain-containing protein 11

    NCBI Reference Sequences (RefSeq)

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    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_001278505.2 → NP_001265434.1  G patch domain-containing protein 11 isoform 2

      See identical proteins and their annotated locations for NP_001265434.1

      Status: VALIDATED

      Source sequence(s)
      AC007899
      UniProtKB/TrEMBL
      A0A6Q8JGY2
      Related
      ENSP00000281932.6, ENST00000281932.6
      Conserved Domains (1) summary
      pfam13821
      Location:108 → 155
      DUF4187; Domain of unknown function (DUF4187)

    2. NM_001322249.4 → NP_001309178.3  G patch domain-containing protein 11 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC007899
      UniProtKB/Swiss-Prot
      A0A0A0MSF9, A8K0D9, B7Z2G4, B8ZZ44, Q8N954
      Conserved Domains (3) summary
      COG5281
      Location:34 → 166
      COG5281; Phage-related minor tail protein [Mobilome: prophages, transposons]
      pfam01585
      Location:74 → 109
      G-patch; G-patch domain
      pfam13821
      Location:201 → 248
      DUF4187; Domain of unknown function (DUF4187)

    3. NM_001371856.3 → NP_001358785.2  G patch domain-containing protein 11 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC007899
      UniProtKB/Swiss-Prot
      A0A0A0MSF9, A8K0D9, B7Z2G4, B8ZZ44, Q8N954
      Conserved Domains (2) summary
      smart00443
      Location:74 → 117
      G_patch; glycine rich nucleic binding domain
      pfam13821
      Location:223 → 270
      DUF4187; Domain of unknown function (DUF4187)

    4. NM_001371858.3 → NP_001358787.2  G patch domain-containing protein 11 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC007899
      Consensus CDS
      CCDS1785.4
      UniProtKB/Swiss-Prot
      A0A0A0MSF9, A8K0D9, B7Z2G4, B8ZZ44, Q8N954
      UniProtKB/TrEMBL
      A0A6I8PRS5
      Conserved Domains (2) summary
      pfam01585
      Location:74 → 117
      G-patch; G-patch domain
      pfam13821
      Location:215 → 262
      DUF4187; Domain of unknown function (DUF4187)

    5. NM_001371859.3 → NP_001358788.2  G patch domain-containing protein 11 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC007899
      Consensus CDS
      CCDS1785.4
      UniProtKB/Swiss-Prot
      A0A0A0MSF9, A8K0D9, B7Z2G4, B8ZZ44, Q8N954
      UniProtKB/TrEMBL
      A0A6I8PRS5
      Conserved Domains (2) summary
      pfam01585
      Location:74 → 117
      G-patch; G-patch domain
      pfam13821
      Location:215 → 262
      DUF4187; Domain of unknown function (DUF4187)

    6. NM_001371860.3 → NP_001358789.2  G patch domain-containing protein 11 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC007899
      UniProtKB/Swiss-Prot
      A0A0A0MSF9, A8K0D9, B7Z2G4, B8ZZ44, Q8N954
      Conserved Domains (2) summary
      smart00443
      Location:74 → 116
      G_patch; glycine rich nucleic binding domain
      pfam13821
      Location:214 → 261
      DUF4187; Domain of unknown function (DUF4187)

    7. NM_001371861.3 → NP_001358790.2  G patch domain-containing protein 11 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC007899
      UniProtKB/Swiss-Prot
      A0A0A0MSF9, A8K0D9, B7Z2G4, B8ZZ44, Q8N954
      Conserved Domains (2) summary
      smart00443
      Location:74 → 116
      G_patch; glycine rich nucleic binding domain
      pfam13821
      Location:214 → 261
      DUF4187; Domain of unknown function (DUF4187)

    8. NM_001371862.3 → NP_001358791.2  G patch domain-containing protein 11 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC007899
      UniProtKB/Swiss-Prot
      A0A0A0MSF9, A8K0D9, B7Z2G4, B8ZZ44, Q8N954
      Conserved Domains (2) summary
      smart00443
      Location:74 → 117
      G_patch; glycine rich nucleic binding domain
      pfam13821
      Location:212 → 259
      DUF4187; Domain of unknown function (DUF4187)

    9. NM_174931.4 → NP_777591.4  G patch domain-containing protein 11 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC007899, AK095667, AK294697
      Consensus CDS
      CCDS1785.4
      UniProtKB/Swiss-Prot
      A0A0A0MSF9, A8K0D9, B7Z2G4, B8ZZ44, Q8N954
      UniProtKB/TrEMBL
      A0A6I8PRS5
      Related
      ENSP00000501347.1, ENST00000674370.2
      Conserved Domains (2) summary
      pfam01585
      Location:74 → 117
      G-patch; G-patch domain
      pfam13821
      Location:215 → 262
      DUF4187; Domain of unknown function (DUF4187)

    RNA

    1. NR_163986.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007899

    2. NR_163987.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007899

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      37084518..37099244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      37091653..37106376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N954.4 GenPept UniProtKB/Swiss-Prot:Q8N954

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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