U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    MAMDC4 MAM domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 158056, updated on 14-Nov-2024

    Summary

    Official Symbol
    MAMDC4provided by HGNC
    Official Full Name
    MAM domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:24083
    See related
    Ensembl:ENSG00000177943 MIM:617208; AllianceGenome:HGNC:24083
    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
    AEGP; EDTB
    Summary
    Predicted to enable protein histidine phosphatase activity. Predicted to be involved in peptidyl-histidine dephosphorylation. Predicted to be located in cytosol. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 5.0), spleen (RPKM 4.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MAMDC4 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136852346..136860799)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149086528..149094981)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139746798..139755251)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:139736293-139737174 and GRCh37_chr9:139737175-139738055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139738056-139738936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20554 Neighboring gene apical junction component 1 homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139752096-139752733 Neighboring gene phosphohistidine phosphatase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20556 Neighboring gene endothelial differentiation related factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29334 Neighboring gene uncharacterized LOC105376326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20558 Neighboring gene TNF receptor associated factor 2

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PHPT1

    Clone Names

    • DKFZp434M1411

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    apical endosomal glycoprotein
    Names
    MAM domain-containing protein 4
    apical early endosomal glycoprotein
    endotubin

    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_206920.3NP_996803.2  apical endosomal glycoprotein precursor

      See identical proteins and their annotated locations for NP_996803.2

      Status: VALIDATED

      Source sequence(s)
      AL355987, AY358419, BF339007, BQ270782
      Consensus CDS
      CCDS7010.1
      UniProtKB/Swiss-Prot
      A2A3D4, B0QZ81, Q5T5S2, Q6UXC1, Q8NCX7
      Related
      ENSP00000319388.2, ENST00000317446.7
      Conserved Domains (4) summary
      cd06263
      Location:577728
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00137
      Location:8891055
      MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
      cd00112
      Location:229261
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      pfam00629
      Location:577729
      MAM; MAM domain, meprin/A5/mu

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136852346..136860799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149086528..149094981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)