HABP4 hyaluronan binding protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HABP4provided by HGNC
Official Full Name: hyaluronan binding protein 4provided by HGNC
Primary source: HGNC:HGNC:17062
See related: Ensembl:ENSG00000130956 MIM:617369; AllianceGenome:HGNC:17062
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: IHABP4; IHABP-4; Ki-1/57; SERBP1L
Summary: Enables SUMO binding activity. Involved in PML body organization; positive regulation of RNA splicing; and positive regulation of translational initiation. Located in several cellular components, including cytoplasmic stress granule; nuclear lumen; and nuclear membrane. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in brain (RPKM 24.4), testis (RPKM 16.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.32

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (96450102..96491336)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (108621878..108663114)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (99212451..99253618)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ki-1-57 is a target of sumoylation and affects pml nuclear body formation.
Title: Human Regulatory Protein Ki-1/57 Is a Target of SUMOylation and Affects PML Nuclear Body Formation.
Ki-1/57 may be involved in translational regulation
Title: Evidence for the association of the human regulatory protein Ki-1/57 with the translational machinery.
Ki-1/57 is localized to several subnuclear domains, all of which have been described to splicing and other RNA processing events.
Title: From protein interaction profile to functional assignment: the human protein Ki-1/57 is associated with pre-mRNA splicing events.
Observational study of gene-disease association. (HuGE Navigator)
Title: Confirmation of linkage to and localization of familial colon cancer risk haplotype on chromosome 9q22.
Findings suggest that Ki-1/57 is probably involved in cellular events related to RNA functions, such as pre-mRNA splicing.
Title: Functional association of human Ki-1/57 with pre-mRNA splicing events.
Data suggest that Ki-1/57 has characteristics of an intrinsically unstructured protein, which may explain its functional plasticity.
Title: Human regulatory protein Ki-1/57 has characteristics of an intrinsically unstructured protein.
MEF2C DNA-binding activity is inhibited through its interaction with Ki-1/57.
Title: MEF2C DNA-binding activity is inhibited through its interaction with the regulatory protein Ki-1/57.
interacts with the C-terminal region of the human chromatin-remodeling factor CHD-3
Title: Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3.
Has two conserved Gly/Arg-rich motif clusters (RGG/RXR box, where X is any amino acid) that may be substrates for arginine-methylation by PRMT1.
Title: Ki-1/57 interacts with PRMT1 and is a substrate for arginine methylation.
association of Ki-1/57 with the RACK1/PKC pathway and may be important for the regulation of its cellular functions
Title: Ki-1/57 interacts with RACK1 and is a substrate for the phosphorylation by phorbol 12-myristate 13-acetate-activated protein kinase C.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A008Z48 (e-PCR)
- UniSTS:3630

D9S1145 (e-PCR)
- UniSTS:49299

D9S1011E (e-PCR)
- UniSTS:73644

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables SUMO binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosome binding	ISS Inferred from Sequence or Structural Similarity more info
enables translation elongation factor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in PML body organization	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of RNA splicing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of translational initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of translational initiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosome hibernation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in Gemini of coiled bodies	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcomere	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: intracellular hyaluronan-binding protein 4

Names: chromodomain helicase DNA binding protein 3 interacting protein; intracellular antigen detected by monoclonal antibody Ki-1; ki-1/57 intracellular antigen

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)

NM_014282.4 → NP_055097.2 intracellular hyaluronan-binding protein 4

See identical proteins and their annotated locations for NP_055097.2

Status: VALIDATED

Source sequence(s)

AF241831, AK025144, BC018788, CN287447, DR006985

Consensus CDS

CCDS6719.1

UniProtKB/Swiss-Prot

O75804, Q5JVS0, Q8WV33, Q9NYJ2

Related

ENSP00000364398.4, ENST00000375249.5

Conserved Domains (2) summary

pfam04774
Location:212 → 316

HABP4_PAI-RBP1; Hyaluronan / mRNA binding family

pfam16174
Location:16 → 131

IHABP4_N; Intracellular hyaluronan-binding protein 4 N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

96450102..96491336

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423008.1 → XP_047278964.1 intracellular hyaluronan-binding protein 4 isoform X3
XM_047423007.1 → XP_047278963.1 intracellular hyaluronan-binding protein 4 isoform X3
XM_047423006.1 → XP_047278962.1 intracellular hyaluronan-binding protein 4 isoform X1
XM_005251812.4 → XP_005251869.1 intracellular hyaluronan-binding protein 4 isoform X2

Conserved Domains (1) summary

pfam04774
Location:102 → 206

HABP4_PAI-RBP1; Hyaluronan / mRNA binding family

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

108621878..108663114

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362392.1 → XP_054218367.1 intracellular hyaluronan-binding protein 4 isoform X3
XM_054362391.1 → XP_054218366.1 intracellular hyaluronan-binding protein 4 isoform X3
XM_054362389.1 → XP_054218364.1 intracellular hyaluronan-binding protein 4 isoform X1
XM_054362390.1 → XP_054218365.1 intracellular hyaluronan-binding protein 4 isoform X2