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FLASH GENE

Symbol

INSL6

contributors: mct/ - updated : 11-10-2017

HGNC name	insulin-like 6
HGNC id	6089

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	9p24.1      Physical location : 5.163.864 - 5.185.618
Synonym name	relaxin/insulin-like factor 1
Synonym symbol(s)	RIF1

DNA

TYPE	functioning gene
STRUCTURE	21.75 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

located near INSL4 and TDFA

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_007179 2 - 711 NP_009110 250 213 - 2000 10819760

EXPRESSION

Type

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 Reproductive male system testis     specific

cells

System Cell Pubmed Species Stage Rna symbol Reproductive germ cell Reproductive sperm cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain conserved in all eukaryotes and predicted to consist of 14–21 tandem HEAT-like (Huntingtin, Elongation factor 3, A subunit of protein phosphatase 2A, and Tor1) repeats
	protein matching the classical signature of the insulin superfamily with B and A chain regions
	a signal peptide, a B chain, a connecting C chain, and an A chain
	a DNA-binding domain that resembles the alphaCTD domain of bacterial RNA polymerase alpha, and is required to resist replication stress
	C-terminal domain with a DNA-binding domain and interacts with the BLM complex

HOMOLOGY

interspecies	homolog to murine Insl6
	homolog to C.elegans T08G5.3
	ortholog to rattus rat INSL6

Homologene

FAMILY	insulin family
	insulin/IGF/relaxin family

CATEGORY

signaling hormone

SUBCELLULAR LOCALIZATION	extracellular
text	meiotic and postmeiotic germ cells of the testis are the principal sites of expression of INSL6

basic FUNCTION	having a role in sperm development and fertilization
	required for the progression of spermatogenesis
	confers a new DNA interface for the BLM complex to maintain normal replication

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

reproduction/sex

PATHWAY

metabolism

signaling

a component

integral component of the BLM complex

INTERACTION

DNA

RNA

small molecule

protein	physically interacts with the BLM complex through a conserved C-terminal domain, and the stability of Rif1 depends on the presence of the BLM complex
	INSL6 is a novel CUL4B substrate in male germ cells, evidenced by its direct polyubiquination and degradation by CUL4B E3 ligase

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

majority of the Insl6-deficient males on a hybrid genetic background exhibited impaired fertility, whereas females were fertile