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GRAMD4 GRAM domain containing 4 [ Homo sapiens (human) ]

Gene ID: 23151, updated on 12-Oct-2019

Summary

Official Symbol
GRAMD4provided by HGNC
Official Full Name
GRAM domain containing 4provided by HGNC
Primary source
HGNC:HGNC:29113
See related
Ensembl:ENSG00000075240 MIM:613691
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
DIP
Summary
GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011]
Expression
Ubiquitous expression in colon (RPKM 10.9), small intestine (RPKM 9.6) and 25 other tissues See more
Orthologs

Genomic context

See GRAMD4 in Genome Data Viewer
Location:
22q13.31
Exon count:
25
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (46576017..46682756)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46973124..47078652)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene cadherin EGF LAG seven-pass G-type receptor 1 Neighboring gene family with sequence similarity 136 member A pseudogene Neighboring gene VISTA enhancer hs1924 Neighboring gene uncharacterized LOC105373075 Neighboring gene ceramide kinase Neighboring gene uncharacterized LOC105373077 Neighboring gene uncharacterized LOC107985566

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

Homology

Clone Names

  • KIAA0767, MGC90497, MGC149847

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of toll-like receptor 9 signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
GRAM domain-containing protein 4
Names
death-inducing-protein

NCBI Reference Sequences (RefSeq)

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_001366660.1NP_001353589.1  GRAM domain-containing protein 4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL021392, AL096766
  2. NM_015124.5NP_055939.1  GRAM domain-containing protein 4 isoform 1

    See identical proteins and their annotated locations for NP_055939.1

    Status: VALIDATED

    Source sequence(s)
    AL021392, AL096766
    Consensus CDS
    CCDS33672.1
    UniProtKB/Swiss-Prot
    Q6IC98
    Related
    ENSP00000385689.1, ENST00000406902.6
    Conserved Domains (3) summary
    cd13221
    Location:460565
    PH-GRAM_GRAMDC4; GRAM domain-containing protein 4 (GRAMDC4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam08372
    Location:305397
    PRT_C; Plant phosphoribosyltransferase C-terminal
    pfam15233
    Location:73142
    SYCE1; Synaptonemal complex central element protein 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    46576017..46682756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724169.1XP_006724232.1  GRAM domain-containing protein 4 isoform X4

    Conserved Domains (2) summary
    cd13221
    Location:483588
    PH-GRAM_GRAMDC4; GRAM domain-containing protein 4 (GRAMDC4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam15233
    Location:96165
    SYCE1; Synaptonemal complex central element protein 1
  2. XM_005261396.3XP_005261453.1  GRAM domain-containing protein 4 isoform X3

    Conserved Domains (2) summary
    cd13221
    Location:486591
    PH-GRAM_GRAMDC4; GRAM domain-containing protein 4 (GRAMDC4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam15233
    Location:99168
    SYCE1; Synaptonemal complex central element protein 1
  3. XM_006724170.4XP_006724233.1  GRAM domain-containing protein 4 isoform X5

    See identical proteins and their annotated locations for XP_006724233.1

    UniProtKB/Swiss-Prot
    Q6IC98
    Related
    ENSP00000354313.3, ENST00000361034.7
    Conserved Domains (3) summary
    cd13221
    Location:460565
    PH-GRAM_GRAMDC4; GRAM domain-containing protein 4 (GRAMDC4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam08372
    Location:305397
    PRT_C; Plant phosphoribosyltransferase C-terminal
    pfam15233
    Location:73142
    SYCE1; Synaptonemal complex central element protein 1
  4. XM_017028670.2XP_016884159.1  GRAM domain-containing protein 4 isoform X5

    UniProtKB/Swiss-Prot
    Q6IC98
    Conserved Domains (3) summary
    cd13221
    Location:460565
    PH-GRAM_GRAMDC4; GRAM domain-containing protein 4 (GRAMDC4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam08372
    Location:305397
    PRT_C; Plant phosphoribosyltransferase C-terminal
    pfam15233
    Location:73142
    SYCE1; Synaptonemal complex central element protein 1
  5. XM_011530011.1XP_011528313.1  GRAM domain-containing protein 4 isoform X1

    Conserved Domains (3) summary
    cd13221
    Location:460545
    PH-GRAM_GRAMDC4; GRAM domain-containing protein 4 (GRAMDC4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam08372
    Location:305397
    PRT_C; Plant phosphoribosyltransferase C-terminal
    pfam15233
    Location:73142
    SYCE1; Synaptonemal complex central element protein 1
  6. XM_011530012.1XP_011528314.1  GRAM domain-containing protein 4 isoform X2

    Conserved Domains (3) summary
    pfam08372
    Location:305397
    PRT_C; Plant phosphoribosyltransferase C-terminal
    pfam15233
    Location:73142
    SYCE1; Synaptonemal complex central element protein 1
    cl17171
    Location:460542
    PH-like; Pleckstrin homology-like domain
  7. XM_011530014.2XP_011528316.1  GRAM domain-containing protein 4 isoform X6

    Conserved Domains (1) summary
    pfam15233
    Location:73142
    SYCE1; Synaptonemal complex central element protein 1
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