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FLASH GENE

Symbol

NPHP3

contributors: mct - updated : 26-06-2019

HGNC name	nephronophthisis 3 (adolescent)
HGNC id	7907

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MKSL1 Meckel -like syndrome 1 NPHP3 nephronophthisis 3 SLSN3 Senior-Loken syndrome 3
Location	3q22.1      Physical location : 132.399.453 - 132.441.276
Synonym name	nephrocystin 3
Synonym symbol(s)	NPH3, FLJ30691, FLJ36696, KIAA2000, CFAP31, MKS7, RHPD, RHPD1, SLSN3, MGC78666, DKFZp667K242,

DNA

TYPE	functioning gene
STRUCTURE	41.80 kb     27 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	multiple alternative trascripts

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_153240 27 - 5348 NP_694972 - 1330 - 2017 28921755

EXPRESSION

Type	ubiquitous

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 Digestive esophagus       highly Hearing/Equilibrium ear inner cochlea   highly Nervous brain diencephalon hypothalamus       nerve cranial nerve     highly Urinary kidney         Visual eye lacrimal gland         eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis     Epithelial secretory glandular

cells

System Cell Pubmed Species Stage Rna symbol Urinary tubular cell Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a coiled-coil (CC) domain
	a tubulin-tyrosine ligase (TTL) domain,
	a signal peptide
	eleven tetratrico peptide repeat (TPR) domains
	a STAND domain (signal transduction ATPases with numerous domains)

HOMOLOGY

interspecies

ortholog to murine Nphp3

Homologene

FAMILY

kinesin light chain family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	cilia, retinal connecting cilia and primary cilia in ubular cells

basic FUNCTION	kinesin light chain may be playing a role in organelle transport
	the light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity
	playing a role in regulation of microtubules and in renal monocilia or in cell-cell and cell- matrix signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , electron transport

text	playing a role in cilia funtion

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	inversin
	NPHP1
	INVS is essential for the compartmental localization of NPHP3 and NEK8, whereas localization of INVS does not require NPHP3 or NEK8
	ANKS6 is a new NPHP family member that connects NEK8 (NPHP9) to INVS (NPHP2) and NPHP3
	UNC119 and PDED are acyl- and prenyl-binding proteins, respectively, involved in trafficking of acylated (transducin-alpha subunit, nephrocystin NPHP3) and prenylated protein
	GNAT1, NPHP3, and PKD1 bind with high affinity to UNC119, whereas a peptide derived from a non-ciliary localizing protein (SRC) has low affinity
	INVS and NPHP3 cooperate and promote ANKS6 phosphorylation by NEK8 in renal cilia
	primary cilia formation could be regulated by TMSB4X through its interaction with NPHP3 and/or the control of NPHP3 expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NPHP3 , SLSN3 , MKSL1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS