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FLASH GENE

Symbol

HOXC13

contributors: mct - updated : 05-12-2012

HGNC name	homeo box C13
HGNC id	5125

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EDHN3 ectodermal dysplasia, 'pure' hair-nail type 3
Location	12q13.13      Physical location : 54.332.575 - 54.340.327
Synonym name	homeo box C13(3G)
	NUP98/HOXC13
	homeo box 3G
Synonym symbol(s)	HOX3G, HXCD, ECTD9, HOX3

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, component of a cluster
STRUCTURE	7.75 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see HOXC@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017410 2 - 2435 NP_059106 - 330 - -

EXPRESSION

Type	restricted

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 Cardiovascular heart         Digestive mouth tongue       Reproductive female system breast mammary gland     Skin/Tegument skin appendages hair bulb   highly Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, DNA binding domain

HOMOLOGY

Homologene

FAMILY

ABD-B homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
	HOXC13 and FOXQ1 control medulla differentiation of the hair through a common regulatory pathway
	have an affinity for a DNA fragment corresponding to the sequence covered by the pre-replicative complex of the human lamin B2 replication origin
	importance of HOXC13 in hair and nail development

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	bound to TAAT and TTAT core motifs concentrated in the proximal promoter region of hair keratin gene
	binds the lamin B2 replication origin and the origins located near the TOP1 and MCM4 genes in asynchronously growing cells, whereas it does not bind these origins in G(0) resting cells, consistently with its involvement in origin function
	HOXC13-dependent activation of FOXN1 is part of a regulatory cascade controlling the expression of terminal differentiation markers
	can regulate, directly or via the FOXN1 transcription factor, the expression of a number of hair and nail keratins, keratin-associated proteins, and desmosomal cadherins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EDHN3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with NUP98 in t(11;12) (p15;q13) in acute myeloid leukemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Hoxc13-null mice and transgenic Hoxc13-overexpressing mice presented with alopecia, indicating that Hoxc13 is a vital regulator in hair morphogenesis and postnatal cycling