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

Gene ID: 158056, updated on 1-Oct-2022

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 be involved in protein transport. Predicted to be located in membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver (RPKM 5.0), spleen (RPKM 4.3) and 25 other tissues See more
Orthologs
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Genomic context

See MAMDC4 in Genome Data Viewer
Location:
9q34.3
Exon count:
27
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136852346..136860799)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149086528..149094981)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139746798..139755251)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13741 Neighboring gene apical junction component 1 homolog Neighboring gene phosphohistidine phosphatase 1 Neighboring gene endothelial differentiation related factor 1 Neighboring gene uncharacterized LOC105376326 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

Homology

Clone Names

  • DKFZp434M1411

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_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
    Q6UXC1
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)