Khdrbs1 MGI Mouse Gene Detail - MGI:893579 - KH domain containing, RNA binding, signal transduction associated 1

Symbol

Khdrbs1
Name

KH domain containing, RNA binding, signal transduction associated 1
Synonyms

p62, Sam68

Feature Type

protein coding gene
IDs

MGI:893579
NCBI Gene: 20218
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr4:129596957-129636096 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 63.34 cM
Mapping Data

1 experiment

SNPs within 2kb

450 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_893579	protein coding gene	Chr4:129596143-129637402 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0028838	protein coding gene	Chr4:131649060-131693283 (-)
A/J	MGP_AJ_G0028797	protein coding gene	Chr4:126384388-126423435 (-)
AKR/J	MGP_AKRJ_G0028750	protein coding gene	Chr4:129909216-129951109 (-)
BALB/cJ	MGP_BALBcJ_G0028820	protein coding gene	Chr4:126990337-127029667 (-)
C3H/HeJ	MGP_C3HHeJ_G0028534	protein coding gene	Chr4:129969786-130008110 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0029262	protein coding gene	Chr4:136597879-136643763 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026534	protein coding gene	Chr4:119514855-119552824 (-)
CAST/EiJ	MGP_CASTEiJ_G0027966	protein coding gene	Chr4:128154566-128193057 (-)
CBA/J	MGP_CBAJ_G0028500	protein coding gene	Chr4:140021640-140063146 (-)
DBA/2J	MGP_DBA2J_G0028649	protein coding gene	Chr4:126819283-126861613 (-)
FVB/NJ	MGP_FVBNJ_G0028616	protein coding gene	Chr4:125575621-125619255 (-)
LP/J	MGP_LPJ_G0028750	protein coding gene	Chr4:131958507-132001399 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028642	protein coding gene	Chr4:144793572-144835414 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029300	protein coding gene	Chr4:130278644-130322538 (-)
PWK/PhJ	MGP_PWKPhJ_G0027688	protein coding gene	Chr4:123420274-123459203 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0027514	protein coding gene	Chr4:126147960-126189109 (-)
WSB/EiJ	MGP_WSBEiJ_G0028047	protein coding gene	Chr4:130407674-130450500 (-)

Human Ortholog

KHDRBS1, KH RNA binding domain containing, signal transduction associated 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KHDRBS1, KH RNA binding domain containing, signal transduction associated 1
Synonyms

p62, p68, Sam68
Links

HGNC:18116

NCBI Gene ID: 10657

neXtProt AC: NX_Q07666

UniProt: Q07666
Chr Location

1p35.2; chr1:32013868-32060850 (+) GRCh38

MGI Vertebrate Homology

Khdrbs1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KHDRBS1
Gene Tree

Khdrbs1

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Phenotype Summary

16 phenotypes from 1 allele in 2 genetic backgrounds
5 phenotypes from multigenic genotypes
3 images
47 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

35
Chemically induced (other)

2
Endonuclease-mediated

5
Gene trapped

20
Radiation induced

1
Targeted

6
Transgenic

1
Genomic Mutations

4 involving Khdrbs1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene protects mice from age-related bone loss and the formation of fatty bone marrow. Males are infertile and females do not care for young. Some die at birth.

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All GO Annotations

61
GO References

17

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

798
Tissues

79
cDNA Data

18
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase khdrbs1

ZFIN khdrbs1a, khdrbs1b

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All Sequences

54
RefSeq

5
UniProt

1
CCDS

CCDS18703.1

Ensembl

ENSMUSG00000028790 (Evidence)
NCBI Gene

20218

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028790	Ensembl Gene Model \| MGI Sequence Detail	39140	C57BL/6J	± kb
transcript	ENSMUST00000129342	Ensembl \| MGI Sequence Detail	2600	Not Applicable
polypeptide	ENSMUSP00000115402	Ensembl \| MGI Sequence Detail	443	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000009279 KH domain-containing, RNA-binding, signal transduction-associated protein 1

(term hierarchy)
InterPro Domains

IPR045071 KH domain-containing BBP-like

IPR032571 KHDRBS, Qua1 domain

IPR004087 K Homology domain

IPR004088 K Homology domain, type 1

IPR036612 K Homology domain, type 1 superfamily

IPR032335 Sam68, tyrosine-rich domain
GlyGen

Q60749 1 site, 1 O-linked glycan (1 site)

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All nucleic 22

cDNA 19

Primer pair 3

Microarray probesets 9

Summaries

All 103

Developmental Gene Expression 9

Gene Ontology 17

Phenotypes 47
Earliest

J:17885 Fumagalli S, et al., A target for Src in mitosis. Nature. 1994 Apr 28;368(6474):871-4
Latest

J:353360 Cesari E, et al., Differential expression of paralog RNA binding proteins establishes a dynamic splicing program required for normal cerebral cortex development. Nucleic Acids Res. 2024 May 8;52(8):4167-4184

TSS for Khdrbs1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr43563	Chr4:129636068-129636105 (-)	9 bp
Tssr43562	Chr4:129636026-129636061 (-)	52 bp
Tssr43561	Chr4:129635973-129635982 (-)	118 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24