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CISD1 CDGSH iron sulfur domain 1 [ Homo sapiens (human) ]

Gene ID: 55847, updated on 24-Nov-2020

Summary

Official Symbol
CISD1provided by HGNC
Official Full Name
CDGSH iron sulfur domain 1provided by HGNC
Primary source
HGNC:HGNC:30880
See related
Ensembl:ENSG00000122873 MIM:611932
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
ZCD1; MDS029; C10orf70; mitoNEET
Summary
This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012]
Expression
Ubiquitous expression in heart (RPKM 13.4), small intestine (RPKM 9.9) and 23 other tissues See more
Orthologs

Genomic context

See CISD1 in Genome Data Viewer
Location:
10q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (58269162..58289586)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60028862..60050752)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S35 pseudogene 3 Neighboring gene inositol polyphosphate multikinase Neighboring gene tumor protein, translationally-controlled 1 pseudogene 10 Neighboring gene uncharacterized LOC112268068 Neighboring gene Sharpr-MPRA regulatory region 7957 Neighboring gene ubiquitin conjugating enzyme E2 D1

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?

Phenotypes

Associated conditions

Description Tests
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Application of HIV-1 Tat transmembrane transport peptide to cells induces PKN1 gene and slightly represses two genes, ZCD1 and BSG PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14684

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of cellular respiration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic side of mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
CDGSH iron-sulfur domain-containing protein 1
Names
zinc finger CDGSH-type domain 1

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_018464.5NP_060934.1  CDGSH iron-sulfur domain-containing protein 1

    See identical proteins and their annotated locations for NP_060934.1

    Status: VALIDATED

    Source sequence(s)
    AC016396, AI025360, AY960578, DA417986
    Consensus CDS
    CCDS7251.1
    UniProtKB/Swiss-Prot
    Q9NZ45
    UniProtKB/TrEMBL
    A0A024QZN7
    Related
    ENSP00000363041.4, ENST00000333926.6
    Conserved Domains (2) summary
    smart00704
    Location:5593
    ZnF_CDGSH; CDGSH-type zinc finger. Function unknown
    pfam10660
    Location:1241
    MitoNEET_N; Iron-containing outer mitochondrial membrane protein N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    58269162..58289586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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