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SLC25A44 solute carrier family 25 member 44 [ Homo sapiens (human) ]

Gene ID: 9673, updated on 1-Jun-2020

Summary

Official Symbol
SLC25A44provided by HGNC
Official Full Name
solute carrier family 25 member 44provided by HGNC
Primary source
HGNC:HGNC:29036
See related
Ensembl:ENSG00000160785 MIM:610824
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
Summary
SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in brain (RPKM 13.3), kidney (RPKM 10.2) and 25 other tissues See more
Orthologs

Genomic context

See SLC25A44 in Genome Data Viewer
Location:
1q22
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156194089..156212796)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156163728..156182587)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lamin A/C Neighboring gene VISTA enhancer hs2129 Neighboring gene semaphorin 4A Neighboring gene PMF1-BGLAP readthrough Neighboring gene polyamine modulated factor 1 Neighboring gene BGLAP promoter region Neighboring gene bone gamma-carboxyglutamate protein

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

Phenotypes

NHGRI GWAS Catalog

Description
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90431, KIAA0446

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
branched-chain amino acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
branched-chain amino acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
branched-chain amino acid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
solute carrier family 25 member 44

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_001286184.2NP_001273113.1  solute carrier family 25 member 44 isoform 1

    See identical proteins and their annotated locations for NP_001273113.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB007915, AL135927, BC008843
    Consensus CDS
    CCDS72943.1
    UniProtKB/Swiss-Prot
    Q96H78
    UniProtKB/TrEMBL
    E9PGQ0
    Related
    ENSP00000407560.3, ENST00000423538.6
    Conserved Domains (1) summary
    pfam00153
    Location:105204
    Mito_carr; Mitochondrial carrier protein
  2. NM_001377385.1NP_001364314.1  solute carrier family 25 member 44 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL135927
  3. NM_001377386.1NP_001364315.1  solute carrier family 25 member 44 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL135927
  4. NM_001377387.1NP_001364316.1  solute carrier family 25 member 44 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL135927
  5. NM_001377388.1NP_001364317.1  solute carrier family 25 member 44 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL135927
  6. NM_001377389.1NP_001364318.1  solute carrier family 25 member 44 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL135927
  7. NM_001377390.1NP_001364319.1  solute carrier family 25 member 44 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL135927
  8. NM_014655.4NP_055470.1  solute carrier family 25 member 44 isoform 2

    See identical proteins and their annotated locations for NP_055470.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL135927, BC008843
    Consensus CDS
    CCDS1133.1
    UniProtKB/Swiss-Prot
    Q96H78
    Related
    ENSP00000352497.4, ENST00000359511.4
    Conserved Domains (1) summary
    pfam00153
    Location:108204
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_104408.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AL135927, BC008843, HY053859
  2. NR_104411.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK309678, BC008843
  3. NR_104412.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK309690, AL135927, BC008843

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156194089..156212796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510180.1XP_011508482.1  solute carrier family 25 member 44 isoform X1

    See identical proteins and their annotated locations for XP_011508482.1

    UniProtKB/Swiss-Prot
    Q96H78
    UniProtKB/TrEMBL
    E9PGQ0
    Conserved Domains (1) summary
    pfam00153
    Location:105204
    Mito_carr; Mitochondrial carrier protein
  2. XM_011510181.2XP_011508483.1  solute carrier family 25 member 44 isoform X1

    See identical proteins and their annotated locations for XP_011508483.1

    UniProtKB/Swiss-Prot
    Q96H78
    UniProtKB/TrEMBL
    E9PGQ0
    Conserved Domains (1) summary
    pfam00153
    Location:105204
    Mito_carr; Mitochondrial carrier protein
  3. XM_024451071.1XP_024306839.1  solute carrier family 25 member 44 isoform X2

    Conserved Domains (1) summary
    pfam00153
    Location:108204
    Mito_carr; Mitochondrial carrier protein

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001135672.1: Suppressed sequence

    Description
    NM_001135672.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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