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HIPK1 homeodomain interacting protein kinase 1 [ Homo sapiens (human) ]

Gene ID: 204851, updated on 5-Sep-2021

Summary

Official Symbol
HIPK1provided by HGNC
Official Full Name
homeodomain interacting protein kinase 1provided by HGNC
Primary source
HGNC:HGNC:19006
See related
Ensembl:ENSG00000163349 MIM:608003
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
Myak; Nbak2
Summary
The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 35.1), testis (RPKM 21.2) and 25 other tissues See more
Orthologs
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Genomic context

See HIPK1 in Genome Data Viewer
Location:
1p13.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (113929324..113977869)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (114471946..114520491)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 4 subunit beta 1 Neighboring gene DNA cross-link repair 1B Neighboring gene GATA motif-containing MPRA enhancer 196 Neighboring gene HIPK1 antisense RNA 1 Neighboring gene olfactomedin like 3 Neighboring gene ribosomal protein L13a pseudogene 10

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
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0630, MGC26642, MGC33446, MGC33548

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in adherens junction assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in definitive hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in embryonic camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic retina morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
involved_in endothelial cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in eye development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in iris morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in lens induction in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptidyl-threonine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in retina layer formation IEA
Inferred from Electronic Annotation
more info
 
involved_in smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in PML body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
homeodomain-interacting protein kinase 1
Names
homeodomain interacting protein kinase 1-like protein
nuclear body associated kinase 2b
nuclear body-associated kinase 2
NP_001356735.1
NP_001356736.1
NP_689909.2
NP_852003.1
NP_938009.1
NP_938010.1
XP_005270667.2
XP_005270668.2
XP_005270670.1
XP_006710506.2
XP_011539279.2
XP_024309676.1

NCBI Reference Sequences (RefSeq)

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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_001369806.1NP_001356735.1  homeodomain-interacting protein kinase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL137856, AL731797
    Related
    ENSP00000358571.1, ENST00000369558.5
    Conserved Domains (1) summary
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
  2. NM_001369807.1NP_001356736.1  homeodomain-interacting protein kinase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL137856, AL731797
    Conserved Domains (1) summary
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
  3. NM_152696.4NP_689909.2  homeodomain-interacting protein kinase 1 isoform 2

    See identical proteins and their annotated locations for NP_689909.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a distinct 3' UTR and coding region, compared to variant 1. This results in a protein (isoform 2) which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB089957, AL137856, BC033012
    Consensus CDS
    CCDS868.1
    UniProtKB/Swiss-Prot
    Q86Z02
    Related
    ENSP00000358572.4, ENST00000369559.8
    Conserved Domains (2) summary
    smart00220
    Location:190518
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
  4. NM_181358.3NP_852003.1  homeodomain-interacting protein kinase 1 isoform 4

    See identical proteins and their annotated locations for NP_852003.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks one 5' coding exon, compared to variant 1. These differences result in the use of a downstream translation initiation site and a protein (isoform 4) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA995033, AK302726, AL731797, BC033012, BC036057
    Consensus CDS
    CCDS869.1
    UniProtKB/Swiss-Prot
    Q86Z02
    UniProtKB/TrEMBL
    B4DZ33
    Related
    ENSP00000358566.1, ENST00000369553.5
    Conserved Domains (2) summary
    COG0515
    Location:51225
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:6134
    PKc_like; Protein Kinases, catalytic domain
  5. NM_198268.3NP_938009.1  homeodomain-interacting protein kinase 1 isoform 1

    See identical proteins and their annotated locations for NP_938009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA995033, AK302726, AL137856, AL731797, BC033012
    Consensus CDS
    CCDS867.1
    UniProtKB/Swiss-Prot
    Q86Z02
    UniProtKB/TrEMBL
    B4DZ33
    Related
    ENSP00000407442.3, ENST00000426820.7
    Conserved Domains (1) summary
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
  6. NM_198269.3NP_938010.1  homeodomain-interacting protein kinase 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_938010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks one 5' coding exon, compared to variant 1. These differences result in the use of a downstream translation initiation site and a protein (isoform 3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA995033, AK302726, AL731797, BC028408
    Consensus CDS
    CCDS41370.1
    UniProtKB/Swiss-Prot
    Q86Z02
    UniProtKB/TrEMBL
    A0A024R0H9, B4DZ33
    Related
    ENSP00000340956.4, ENST00000340480.8
    Conserved Domains (2) summary
    COG0515
    Location:71245
    SPS1; Serine/threonine protein kinase [Signal transduction mechanisms]
    cl21453
    Location:1154
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    113929324..113977869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270610.5XP_005270667.2  homeodomain-interacting protein kinase 1 isoform X1

    Conserved Domains (1) summary
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
  2. XM_006710443.4XP_006710506.2  homeodomain-interacting protein kinase 1 isoform X3

    Related
    ENSP00000358574.4, ENST00000369561.8
    Conserved Domains (1) summary
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
  3. XM_011540977.3XP_011539279.2  homeodomain-interacting protein kinase 1 isoform X4

    Conserved Domains (1) summary
    cl21453
    Location:174488
    PKc_like; Protein Kinases, catalytic domain
  4. XM_005270611.5XP_005270668.2  homeodomain-interacting protein kinase 1 isoform X2

    Conserved Domains (1) summary
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
  5. XM_024453908.1XP_024309676.1  homeodomain-interacting protein kinase 1 isoform X5

    Conserved Domains (1) summary
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
  6. XM_005270613.4XP_005270670.1  homeodomain-interacting protein kinase 1 isoform X5

    See identical proteins and their annotated locations for XP_005270670.1

    UniProtKB/Swiss-Prot
    Q86Z02
    Conserved Domains (1) summary
    cd14228
    Location:174528
    STKc_HIPK1; Catalytic domain of the Serine/Threonine Kinase, Homeodomain-Interacting Protein Kinase 1
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