Nckap1l MGI Mouse Gene Detail - MGI:1926063 - NCK associated protein 1 like

Symbol

Nckap1l
Name

NCK associated protein 1 like
Synonyms

4930568P13Rik, Hem1

Feature Type

protein coding gene
IDs

MGI:1926063
NCBI Gene: 105855
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr15:103362221-103407237 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 58.96 cM
Mapping Data

3 experiments

SNPs within 2kb

696 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926063	protein coding gene	Chr15:103362219-103411288 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022443	protein coding gene	Chr15:105722193-105769049 (+)
A/J	MGP_AJ_G0022405	protein coding gene	Chr15:101533305-101578153 (+)
AKR/J	MGP_AKRJ_G0022380	protein coding gene	Chr15:104618206-104664677 (+)
BALB/cJ	MGP_BALBcJ_G0022409	protein coding gene	Chr15:101581091-101626914 (+)
C3H/HeJ	MGP_C3HHeJ_G0022176	protein coding gene	Chr15:104721177-104768997 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022858	protein coding gene	Chr15:109631197-109677589 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020381	protein coding gene	Chr15:97293429-97340261 (+)
CAST/EiJ	MGP_CASTEiJ_G0021702	protein coding gene	Chr15:105577866-105623337 (+)
CBA/J	MGP_CBAJ_G0022145	protein coding gene	Chr15:113470439-113517539 (+)
DBA/2J	MGP_DBA2J_G0022276	protein coding gene	Chr15:100811059-100856588 (+)
FVB/NJ	MGP_FVBNJ_G0022252	protein coding gene	Chr15:99863380-99909592 (+)
LP/J	MGP_LPJ_G0022345	protein coding gene	Chr15:105870289-105916071 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022274	protein coding gene	Chr15:116957081-117004960 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022870	protein coding gene	Chr15:104647756-104696924 (+)
PWK/PhJ	MGP_PWKPhJ_G0021442	protein coding gene	Chr15:100998007-101043113 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021274	protein coding gene	Chr15:104492717-104539238 (+)
WSB/EiJ	MGP_WSBEiJ_G0021752	protein coding gene	Chr15:105274242-105320946 (+)

Human Ortholog

NCKAP1L, NCK associated protein 1 like

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NCKAP1L, NCK associated protein 1 like
Synonyms

HEM1, IMD72
Links

HGNC:4862

NCBI Gene ID: 3071

neXtProt AC: NX_P55160

UniProt: P55160
Chr Location

12q13.13-q13.2; chr12:54497752-54548243 (+) GRCh38

MGI Vertebrate Homology

Nckap1l stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NCKAP1L
Gene Tree

Nckap1l

Diseases

1 with human NCKAP1L associations

				Human Disease	Mouse Models
				immunodeficiency 72 IDs immunodeficiency 72 DOID:0112015 OMIM:618982

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

57 phenotypes from 2 alleles in 2 genetic backgrounds
14 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

11
Chemically induced (ENU)

2
Endonuclease-mediated

1
Targeted

8
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

53 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production.

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All GO Annotations

70
GO References

6

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

757
Tissues

41
cDNA Data

72
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nckap1l

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All Sequences

51
RefSeq

4
UniProt

4
CCDS

CCDS37236.1

Ensembl

ENSMUSG00000022488 (Evidence)
NCBI Gene

105855

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022488	Ensembl Gene Model \| MGI Sequence Detail	45017	C57BL/6J	± kb
transcript	ENSMUST00000047405	Ensembl \| MGI Sequence Detail	4725	Not Applicable
polypeptide	ENSMUSP00000035400	Ensembl \| MGI Sequence Detail	1134	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000011036 Nck-associated protein 1-like

(term hierarchy)
InterPro Domains

IPR019137 Nck-associated protein 1

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All nucleic 73

cDNA 72

Primer pair 1

Microarray probesets 5

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MGI:2146023

Summaries

All 40

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 14
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:335869 Wang X, et al., Hematopoietic cytoplasmic adaptor protein Hem1 promotes osteoclast fusion and bone resorption in mice. J Biol Chem. 2022 Dec 24;299(2):102841

TSS for Nckap1l:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr133538	Chr15:103362209-103362287 (+)	27 bp
Tssr133539	Chr15:103362332-103362342 (+)	116 bp
Tssr133540	Chr15:103371160-103371218 (+)	8,968 bp
Tssr133541	Chr15:103373000-103373014 (+)	10,786 bp
Tssr133542	Chr15:103379129-103379140 (+)	16,914 bp
Tssr133543	Chr15:103381961-103381975 (+)	19,747 bp
Tssr133544	Chr15:103387544-103387552 (+)	25,327 bp
Tssr133545	Chr15:103387556-103387571 (+)	25,343 bp
Tssr133546	Chr15:103387607-103387612 (+)	25,389 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)
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