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ZKSCAN1 zinc finger with KRAB and SCAN domains 1 [ Homo sapiens (human) ]

Gene ID: 7586, updated on 28-Jun-2020

Summary

Official Symbol
ZKSCAN1provided by HGNC
Official Full Name
zinc finger with KRAB and SCAN domains 1provided by HGNC
Primary source
HGNC:HGNC:13101
See related
Ensembl:ENSG00000106261 MIM:601260
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
KOX18; ZNF36; PHZ-37; ZNF139; ZSCAN33
Summary
This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in stomach (RPKM 13.7), skin (RPKM 12.9) and 25 other tissues See more
Orthologs

Genomic context

See ZKSCAN1 in Genome Data Viewer
Location:
7q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100015552..100045374)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99613204..99642803)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene gap junction protein gamma 3 pseudogene Neighboring gene uncharacterized LOC105375423 Neighboring gene zinc finger and SCAN domain containing 21 Neighboring gene zinc finger protein 3 Neighboring gene COP9 signalosome subunit 6

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

  • MGC138429

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 with KRAB and SCAN domains 1
Names
zinc finger protein 139
zinc finger protein 36 (KOX 18)

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_051950.1 RefSeqGene

    Range
    5045..31138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001287054.3NP_001273983.1  zinc finger protein with KRAB and SCAN domains 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 5 encode isoform b.
    Source sequence(s)
    AA873735, AC004522, AC093619, AK054676, HY140376
    Consensus CDS
    CCDS69349.1
    UniProtKB/TrEMBL
    B3KNP9, E9PC66
    Related
    ENSP00000409172.1, ENST00000426572.5
    Conserved Domains (7) summary
    smart00431
    Location:16126
    SCAN; leucine rich region
    COG5048
    Location:320501
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:399419
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:341363
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:191226
    KRAB; KRAB box
    pfam02023
    Location:1693
    SCAN; SCAN domain
    pfam13465
    Location:439464
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001287055.2NP_001273984.1  zinc finger protein with KRAB and SCAN domains 1 isoform c

    See identical proteins and their annotated locations for NP_001273984.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AA873735, AC004522, AC093619, AK091471, HY140376
    Consensus CDS
    CCDS75640.1
    UniProtKB/TrEMBL
    B3KRF7
    Related
    ENSP00000443508.1, ENST00000535170.5
    Conserved Domains (5) summary
    COG5048
    Location:143324
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:222242
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:164186
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:1449
    KRAB; KRAB box
    pfam13465
    Location:262287
    zf-H2C2_2; Zinc-finger double domain
  3. NM_001346579.1NP_001333508.1  zinc finger protein with KRAB and SCAN domains 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC004522, AC093619
  4. NM_001346580.2NP_001333509.1  zinc finger protein with KRAB and SCAN domains 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC004522, AC093619, CB250414
    Consensus CDS
    CCDS69349.1
    UniProtKB/TrEMBL
    E9PC66
    Related
    ENSP00000480305.1, ENST00000620510.1
  5. NM_001346581.2NP_001333510.1  zinc finger protein with KRAB and SCAN domains 1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC004522, AC093619, CB250414
    Consensus CDS
    CCDS34698.1
    UniProtKB/Swiss-Prot
    P17029
    Conserved Domains (4) summary
    smart00431
    Location:52162
    SCAN; leucine rich region
    cd07765
    Location:227262
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    COG5048
    Location:356537
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:435455
    ZF_C2H2; C2H2 Zn finger [structural motif]
  6. NM_003439.4NP_003430.1  zinc finger protein with KRAB and SCAN domains 1 isoform a

    See identical proteins and their annotated locations for NP_003430.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Both variants 1 and 6 encode isoform a.
    Source sequence(s)
    AA873735, AC093619, AK074116, HY140376
    Consensus CDS
    CCDS34698.1
    UniProtKB/Swiss-Prot
    P17029
    Related
    ENSP00000323148.6, ENST00000324306.11
    Conserved Domains (4) summary
    smart00431
    Location:52162
    SCAN; leucine rich region
    cd07765
    Location:227262
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    COG5048
    Location:356537
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:435455
    ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

  1. NR_144477.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004522, AC093619, CB250414

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    100015552..100045374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516559.3XP_011514861.1  zinc finger protein with KRAB and SCAN domains 1 isoform X1

    See identical proteins and their annotated locations for XP_011514861.1

    UniProtKB/Swiss-Prot
    P17029
    Conserved Domains (4) summary
    smart00431
    Location:52162
    SCAN; leucine rich region
    cd07765
    Location:227262
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    COG5048
    Location:356537
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:435455
    ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

  1. XR_002956485.1 RNA Sequence

  2. XR_927529.2 RNA Sequence

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