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ZNF630 zinc finger protein 630 [ Homo sapiens (human) ]

Gene ID: 57232, updated on 5-May-2020

Summary

Official Symbol
ZNF630provided by HGNC
Official Full Name
zinc finger protein 630provided by HGNC
Primary source
HGNC:HGNC:28855
See related
Ensembl:ENSG00000221994 MIM:300819
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
dJ54B20.2
Summary
This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in thyroid (RPKM 1.8), ovary (RPKM 1.5) and 25 other tissues See more
Orthologs

Genomic context

See ZNF630 in Genome Data Viewer
Location:
Xp11.23
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (48057516..48071658, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47917567..47931025, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 182 Neighboring gene sperm acrosome associated 5 Neighboring gene ZNF630 antisense RNA 1 Neighboring gene SSX family member 6, pseudogene Neighboring gene sperm acrosome associated 5B

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

General gene information

Markers

Potential readthrough

Included gene: ZNF182

Homology

Clone Names

  • FLJ20573, FLJ97927, FLJ98691, MGC138344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
zinc finger protein 630
Names
dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger 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.

Genomic

  1. NG_022889.2 RefSeqGene

    Range
    5492..18455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001037735.3NP_001032824.2  zinc finger protein 630 isoform 1

    See identical proteins and their annotated locations for NP_001032824.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (1). Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AK000580, BC112139, BX116378, DA114160, DC353064
    Consensus CDS
    CCDS35237.2
    UniProtKB/Swiss-Prot
    Q2M218
    Related
    ENSP00000386393.3, ENST00000409324.7
    Conserved Domains (6) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:329578
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:405425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:601620
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:847
    KRAB; KRAB box
    pfam13465
    Location:502526
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001190255.2NP_001177184.1  zinc finger protein 630 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK000580, BC112139, BX116378, BX419623, DC319369
    UniProtKB/Swiss-Prot
    Q2M218
    Related
    ENSP00000480858.1, ENST00000616492.4
    Conserved Domains (6) summary
    smart00349
    Location:454
    KRAB; krueppel associated box
    COG5048
    Location:315564
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:391411
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:587606
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:433
    KRAB; KRAB box
    pfam13465
    Location:488512
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001282201.2NP_001269130.1  zinc finger protein 630 isoform 1

    See identical proteins and their annotated locations for NP_001269130.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC244636
    Consensus CDS
    CCDS35237.2
    UniProtKB/Swiss-Prot
    Q2M218
    Related
    ENSP00000354683.4, ENST00000276054.9
    Conserved Domains (6) summary
    smart00349
    Location:868
    KRAB; krueppel associated box
    COG5048
    Location:329578
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:405425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:601620
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:847
    KRAB; KRAB box
    pfam13465
    Location:502526
    zf-H2C2_2; Zinc-finger double domain
  4. NM_001282202.2NP_001269131.1  zinc finger protein 630 isoform 3

    See identical proteins and their annotated locations for NP_001269131.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate splice site in the 3' terminal exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK000580, BC037316, BC112139, BX116378, DC319369
    Consensus CDS
    CCDS75971.1
    UniProtKB/Swiss-Prot
    Q2M218
    UniProtKB/TrEMBL
    B2ZWH0
    Conserved Domains (3) summary
    COG5048
    Location:205454
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281301
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:378402
    zf-H2C2_2; Zinc-finger double domain

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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    48057516..48071658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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