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FLASH GENE

Symbol

ICA1L

contributors: mct - updated : 07-05-2020

HGNC name	islet cell autoantigen 1,69kDa-like
HGNC id	14442

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q33.2      Physical location : 203.637.872 - 203.736.371
Synonym name	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14
	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15
	Ica69-related protein
Synonym symbol(s)	ALS2CR14, ALS2CR15, MGC138440, DKFZp434E1919

DNA

TYPE	functioning gene
STRUCTURE	98.62 kb     14 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_138468 14 - 8113 NP_612477 54 482 - 2001 11586298 variant 2 - - 964 9 82 - 2001 11586298 NM_001288622 13 - 7986 NP_001275551 - 482 - 2001 11586298 NM_001288623 13 - 8151 NP_001275552 - 482 - 2001 11586298 NM_001288624 4 - 911 NP_001275553 - 187 - 2001 11586298

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       highly Nervous brain       highly Homo sapiens Reproductive male system testis     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatid Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an arfaptin domain

HOMOLOGY

interspecies

ortholog to murine Ica1l

Homologene

FAMILY

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	by inference

basic FUNCTION	putative signal transducer
	is crucial for acrosome formation in spermiogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ARF1
	ICA1L is expressed in testes and brain, and is the major binding partner for PICK1 in testes
	it is likely that SRF-ICA1L fusions define a similar subset of neoplasms composed of immature smooth muscle cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       SRF-ICA1L gene fusion, in cellular myoid tumors

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

sperm from Ica1l-knockout mice had abnormalities in the acrosome, nucleus and mitochondrial sheath formation