CRPPA (CDP-L-ribitol pyrophosphorylase A)

symbol
CRPPA
locus group
protein-coding gene
location
7p21.2
gene_family
-
alias symbol
hCG_1745121|IspD|Nip
alias name
notch1-induced protein|4-diphospho…
entrez id
729920
ensembl gene id
ENSG00000214960
ucsc gene id
uc010ktx.2
refseq accession
NM_001101426
hgnc_id
HGNC:37276
approved reserved
2009-10-02
7p21.2

CRPPA(也称为环磷酸腺苷磷酸二酯酶PDE4D7)属于磷酸二酯酶4(PDE4)基因家族,该家族是一类能够降解细胞内第二信使环磷酸腺苷(cAMP)的酶,从而调控多种细胞信号通路。PDE4家族成员广泛分布于人体组织中,尤其在脑、心脏和免疫系统中表达较高,其共性是通过水解cAMP参与细胞增殖、分化、炎症反应及神经递质调控等过程。CRPPA(PDE4D7)是该家族的一个剪接变体,主要在男性生殖系统如前列腺中高表达,其生物学功能与精子活力、激素响应及细胞迁移相关。研究表明,CRPPA在前列腺癌中具有特异性表达模式,其表达水平与肿瘤侵袭性和预后相关。当CRPPA过表达时,可能通过降低cAMP水平促进癌细胞迁移和转移,而表达降低则可能抑制肿瘤进展。此外,CRPPA的突变或异常表达可能影响激素敏感性,例如与去势抵抗性前列腺癌(CRPC)的发展有关。该基因的某些单核苷酸多态性(SNP)也被认为与前列腺癌风险相关。由于PDE4家族在炎症和免疫调节中的作用,CRPPA的异常还可能间接影响肿瘤微环境。目前,针对PDE4家族的抑制剂(如罗氟司特)已被开发用于慢性阻塞性肺病等疾病,但针对CRPPA的特异性疗法仍在研究中。这一基因的独特表达模式使其成为前列腺癌诊断和治疗的潜在靶点。

Nucleotide sequence of CRPPA:[NCBI]
Loading Gene Browser...
Protein Sequence
1MEAGPPGSAR PAEPGPCLSG QRGADHTASA SLQSVAGTEP
41GRHPQAVAAV LPAGGCGERM GVPTPKQFCP ILERPLISYT
81 LQALERVCW IKDIVVAVTG ENMEVMKSII QKYQHKRISL
121VEAGVTRHRS IFNGLKALAE DQINSKLSKP EVVIIHDAVR
161P FVEEGVLL KVVTAAKEHG AAGAIRPLVS TVVSPSADGC
201LDYSLERARH RASEMPQAFL FDVIYEAYQQ CSDYDLEFGT
241EC LQLALKY CCTKAKLVEG SPDLWKVTYK RDLYAAESII
281KERISQEICV VMDTEEDNKH VGHLLEEVLK SELNHVKVTS
321EAL GHAGRH LQQIILDQCY NFVCVNVTTS DFQETQKLLS
361MLEESSLCIL YPVVVVSVHF LDFKLVPPSQ KMENLMQIRE
401FAKE VKERN ILLYGLLISY PQDDQKLQES LRQGAIIIAS
441LIKERNSGLI GQLLIA
Structure predicted by AlphaFold DB(UniProt: A4D126). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).
CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H Pediatr Investig IF: 2.0 2026-02-00
Dysfunctional CRPPA is responsible for recessively inherited Hereford hydrocephalus with muscular dystrophy and retinal dysplasia.
Schroeder RL, Fuller AM, Reith RR, Bedwell PS, Ward JA, Sanders SK, Lasrado N, Petersen JL, Steffen DJ Vet Pathol IF: 2.3 2026-03-00
A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.
Zhang S, Wu M, Li X, Wang S, Zhai R, Li L, Li Z, Guo Q Transl Pediatr IF: 2.0 2025-07-31
Whole-genome sequencing unravels novel genetic determinants and regulatory pathways associated with triamcinolone acetonide-induced ocular hypertension.
Badrinarayanan L, Nagarajan H, Rishi P, Rishi E, George RJ, Chitipothu S Mol Genet Genomics IF: 2.2 2023-01-00
Involvement of abnormal dystroglycan expression and matriglycan levels in cancer pathogenesis.
Quereda C, Pastor À, Martín-Nieto J Cancer Cell Int IF: 2.740 2022-12-09
Integrating Genome-Wide Association Study with RNA-Sequencing Reveals HDAC9 as a Candidate GeneInfluencing Loin Muscle Area in Beijing Black Pigs.
Hou R, Chen L, Liu X, Liu H, Shi G, Hou X, Zhang R, Yang M, Niu N, Wang L, Zhang L Biology (Basel) 2022-11-08

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