CIROZ
entrez
148345
canonical
uniprot
Q8N9H9
canonical
ensembl
ENSG00000175262
resolver
ensp
ENSP00000366203
resolver
ensp
ENSP00000387816
resolver
genesymbol
CIROZ
resolver
genesymbol_syn
C1orf127
resolver
hgnc
HGNC:26730
resolver
uniprot
A0AVG8
resolver
uniprot
A6NKM7
resolver
uniprot
B7ZLG7
resolver
uniprot
G8JLG8
resolver
uniprot
Q5VXJ2
resolver
uniprot_entry
CIROZ_HUMAN
resolver
uniprot_sec
A0AVG8
resolver
uniprot_sec
A6NKM7
resolver
uniprot_sec
B7ZLG7
resolver
uniprot_sec
G8JLG8
resolver
uniprot_sec
Q5VXJ2
resolver
amino_acid_sequence
MWGSPALAWAVWLACVQPTVFPWSLSFRSDTDKPSSAAEVLTEASSCWTDTVECFSDYMTLWIPRSHVEGLRRWLARTLHLPGTWRSPDHLDSSLAKCGYFLHLASDGDFLFRVQYSACFVQKEKANYRLEIRIFQKGVMGLERSDRYIMKCPMLRSRLGQESVHCGPMFIQVSRPLPLWRDNRQTPWLLSLRGELVASLEDASLMGLYVDMNATTVTVQSPRQGLLQRWEVLNTSAELLPLWLVSGHHAYSLEAACPPVSFQPESEVLVHIPKQRLGLVKRGSYIEETLSLRFLRVHQSNIFMVTENKDFVVVSIPAAGVLQVQRCQEVGGTPGTQAFYRVDLSLEFAEMAAPVLWTVESFFQCVGSGTESPASTAALRTTPSPPSPGPETPPAGVPPAASSQVWAAGPAAQEWLSRDLLHRPSDALAKKGLGPFLQTAKPARRGQTSASILPRVVQAQRGPQPPPGEAGIPGHPTPPATLPSEPVEGVQASPWRPRPVLPTHPALTLPVSSDASSPSPPAPRPERPESLLVSGPSVTLTEGLGTVRPEQDPAKSPGSPLLLRGLSSGDVAAPEPIMGEPGQASEEFQPLARPWRATLAAEELVSHRSPGEPQETCSGTEVERPRQTGPGLPREGARGHMDLSSSEPSQDIEGPGLSILPARDATFSTPSVRQPDPSAWLSSGPELTGMPRVRLAAPLAVLPMEPLPPEPVRPAALLTPEASSVGGPDQARYLESAPGWPVGQEEWGVAHTSSPPSTQTLSLWAPTGVLLPSLVELEYPFQAGRGASLQQELTEPTLALSAESHRPPELQDSVEGLSERPSR
uniprot
proteins
disease_involvement
DISEASE: Heterotaxy, visceral, 14, autosomal (HTX14) [MIM:621080]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX14 inheritance is autosomal recessive. {ECO:0000269|PubMed:39753129}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in left-right patterning process. {ECO:0000269|PubMed:39753129}.
uniprot
proteins
mass_dalton
89019
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
39753129
uniprot
proteins
sequence_length
823
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:39753129}.
uniprot
proteins