Q96JP9 (CDHR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cadherin-related family member 1

Alternative name(s):
Photoreceptor cadherin
Short name=prCAD
Protocadherin-21

Gene names

Name:	CDHR1
Synonyms:	KIAA1775, PCDH21, PRCAD

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	859 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells By similarity.
Subunit structure	Interacts with PROM1. Ref.5
Subcellular location	Cell membrane; Single-pass membrane protein By similarity. Note: Localized at the junction between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS. Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium. Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS. Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region By similarity.
Post-translational modification	Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated C-terminal fragment By similarity.
Involvement in disease	Cone-rod dystrophy 15 (CORD15) [MIM:613660]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Contains 6 cadherin domains.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cone-rod dystrophy
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium
Molecular function	Receptor
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	homophilic cell adhesion Inferred from electronic annotation. Source: InterPro photoreceptor cell maintenance Inferred from electronic annotation. Source: Compara
Cellular_component	integral to plasma membrane Inferred from electronic annotation. Source: Compara photoreceptor outer segment membrane Inferred from electronic annotation. Source: Compara
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96JP9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96JP9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     681-744: TLSRSPMAAF...PMRRVLRKRP → VRRLRYMKNS...RVFQGAAQAS
     745-859: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 859	840	Cadherin-related family member 1		PRO_0000318498
Regions
	Topological domain	20 – 700	681	Extracellular Potential
	Transmembrane	701 – 721	21	Helical; Potential
	Topological domain	722 – 859	138	Cytoplasmic Potential
	Domain	36 – 135	100	Cadherin 1
	Domain	136 – 246	111	Cadherin 2
	Domain	247 – 353	107	Cadherin 3
	Domain	359 – 472	114	Cadherin 4
	Domain	473 – 576	104	Cadherin 5
	Domain	573 – 688	116	Cadherin 6
	Compositional bias	773 – 829	57	Pro-rich
Amino acid modifications
	Glycosylation	58	1	N-linked (GlcNAc...) Potential
	Glycosylation	89	1	N-linked (GlcNAc...) Potential
	Glycosylation	296	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	681 – 744	64	TLSRS…LRKRP → VRRLRYMKNSNFPGTTKSVR KPKFKPKKPHSSQGLFLHPH CEIALFNLSNVNLYSRVFQG AAQAS in isoform 2.		VSP_031190
	Alternative sequence	745 – 859	115	Missing in isoform 2.		VSP_031191
	Natural variant	53	1	H → Q. Corresponds to variant rs12781048 [ dbSNP | Ensembl ].		VAR_038744
	Natural variant	212	1	A → T. Ref.7		VAR_038745
	Natural variant	243	1	A → V. Corresponds to variant rs7086200 [ dbSNP | Ensembl ].		VAR_038746
	Natural variant	532	1	P → A. Ref.7		VAR_038747

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 5, 2008. Version 2. Checksum: 7D5D9E3E3353039A	FASTA	859	93,595
	10 20 30 40 50 60 MRRCRWAALA LGLLRLCLAQ ANFAPHFFDN GVGSTNGNMA LFSLPEDTPV GSHVYTLNGT 70 80 90 100 110 120 DPEGDPISYH ISFDPSTRSV FSVDPTFGNI TLVEELDRER EDEIEAIISI SDGLNLVAEK 130 140 150 160 170 180 VVILVTDAND EAPRFIQEPY VALVPEDIPA GSIIFKVHAV DRDTGSGGSV TYFLQNLHSP 190 200 210 220 230 240 FAVDRHSGVL RLQAGATLDY ERSRTHYITV VAKDGGGRLH GADVVFSATT TVTVNVEDVQ 250 260 270 280 290 300 DMAPVFVGTP YYGYVYEDTL PGSEVLKVVA MDGDRGKPNR ILYSLVNGND GAFEINETSG 310 320 330 340 350 360 AISITQSPAQ LQREVYELHV QVTEMSPAGS PAAQATVPVT IRIVDLNNHP PTFYGESGPQ 370 380 390 400 410 420 NRFELSMNEH PPQGEILRGL KITVNDSDQG ANAKFNLQLV GPRGIFRVVP QTVLNEAQVT 430 440 450 460 470 480 IIVENSAAID FEKSKVLTFK LLAVEVNTPE KFSSTADVVI QLLDTNDNVP KFDSLYYVAR 490 500 510 520 530 540 IPENAPGGSS VVAVTAVDPD TGPWGEVKYS TYGTGADLFL IHPSTGLIYT QPWASLDAEA 550 560 570 580 590 600 TARYNFYVKA EDMEGKYSVA EVFITLLDVN DHPPQFGKSV QKKTMVLGTP VKIEAIDEDA 610 620 630 640 650 660 EEPNNLVDYS ITHAEPANVF DINSHTGEIW LKNSIRSLDA LHNITPGRDC LWSLEVQAKD 670 680 690 700 710 720 RGSPSFSTTA LLKIDITDAE TLSRSPMAAF LIQTKDNPMK AVGVLAGTMA TVVAITVLIS 730 740 750 760 770 780 TATFWRNKKS NKVLPMRRVL RKRPSPAPRT IRIEWLKSKS TKAATKFMLK EKPPNENCNN 790 800 810 820 830 840 NSPESSLLPR APALPPPPSV APSTGAAQWT VPTVSGSLTP QPTQPPPKPK TMGSPVQSTL 850 ISELKQKFEK KSVHNKAYF
	Isoform 2 [UniParc]. Checksum: 2DC1824EBB4AA7D9	FASTA	745	81,503
	10 20 30 40 50 60 MRRCRWAALA LGLLRLCLAQ ANFAPHFFDN GVGSTNGNMA LFSLPEDTPV GSHVYTLNGT 70 80 90 100 110 120 DPEGDPISYH ISFDPSTRSV FSVDPTFGNI TLVEELDRER EDEIEAIISI SDGLNLVAEK 130 140 150 160 170 180 VVILVTDAND EAPRFIQEPY VALVPEDIPA GSIIFKVHAV DRDTGSGGSV TYFLQNLHSP 190 200 210 220 230 240 FAVDRHSGVL RLQAGATLDY ERSRTHYITV VAKDGGGRLH GADVVFSATT TVTVNVEDVQ 250 260 270 280 290 300 DMAPVFVGTP YYGYVYEDTL PGSEVLKVVA MDGDRGKPNR ILYSLVNGND GAFEINETSG 310 320 330 340 350 360 AISITQSPAQ LQREVYELHV QVTEMSPAGS PAAQATVPVT IRIVDLNNHP PTFYGESGPQ 370 380 390 400 410 420 NRFELSMNEH PPQGEILRGL KITVNDSDQG ANAKFNLQLV GPRGIFRVVP QTVLNEAQVT 430 440 450 460 470 480 IIVENSAAID FEKSKVLTFK LLAVEVNTPE KFSSTADVVI QLLDTNDNVP KFDSLYYVAR 490 500 510 520 530 540 IPENAPGGSS VVAVTAVDPD TGPWGEVKYS TYGTGADLFL IHPSTGLIYT QPWASLDAEA 550 560 570 580 590 600 TARYNFYVKA EDMEGKYSVA EVFITLLDVN DHPPQFGKSV QKKTMVLGTP VKIEAIDEDA 610 620 630 640 650 660 EEPNNLVDYS ITHAEPANVF DINSHTGEIW LKNSIRSLDA LHNITPGRDC LWSLEVQAKD 670 680 690 700 710 720 RGSPSFSTTA LLKIDITDAE VRRLRYMKNS NFPGTTKSVR KPKFKPKKPH SSQGLFLHPH 730 740 CEIALFNLSN VNLYSRVFQG AAQAS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Retinoblastoma.
[3]	"Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs." Nakajima D., Nakayama M., Kikuno R., Hirosawa M., Nagase T., Ohara O. Brain Res. Mol. Brain Res. 94:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-859 (ISOFORM 1). Tissue: Brain.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 595-859 (ISOFORM 1). Tissue: Testis.
[5]	"Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice." Yang Z., Chen Y., Lillo C., Chien J., Yu Z., Michaelides M., Klein M., Howes K.A., Li Y., Kaminoh Y., Chen H., Zhao C., Chen Y., Al-Sheikh Y.T., Karan G., Corbeil D., Escher P., Kamaya S. , Li C., Johnson S., Frederick J.M., Zhao Y., Wang C., Cameron D.J., Huttner W.B., Schorderet D.F., Munier F.L., Moore A.T., Birch D.G., Baehr W., Hunt D.M., Williams D.S., Zhang K. J. Clin. Invest. 118:2908-2916(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PROM1.
[6]	"Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy." Ostergaard E., Batbayli M., Duno M., Vilhelmsen K., Rosenberg T. J. Med. Genet. 47:665-669(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CORD15.
[7]	"Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies." Bolz H., Ebermann I., Gal A. Mol. Vis. 11:929-933(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS THR-212 AND ALA-532.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC022389 Genomic DNA. No translation available. BC038799 mRNA. Translation: AAH38799.1. AB053448 mRNA. Translation: BAB61905.1. AL080188 mRNA. Translation: CAH10732.1.
IPI	IPI00040730. IPI00217692.
RefSeq	NP_001165442.1. NM_001171971.1. NP_149091.1. NM_033100.2.
UniGene	Hs.137556.
3D structure databases
ProteinModelPortal	Q96JP9.
ModBase	Search...
PTM databases
PhosphoSite	Q96JP9.
Polymorphism databases
DMDM	166980558.
Proteomic databases
PaxDb	Q96JP9.
PRIDE	Q96JP9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000332904; ENSP00000331063; ENSG00000148600. ENST00000372117; ENSP00000361189; ENSG00000148600.
GeneID	92211.
KEGG	hsa:92211.
UCSC	uc001kcv.3. human. uc001kcw.3. human.
Organism-specific databases
CTD	92211.
GeneCards	GC10P085954.
HGNC	HGNC:14550. CDHR1.
HPA	HPA036819.
MIM	609502. gene. 613660. phenotype.
neXtProt	NX_Q96JP9.
Orphanet	1872. Cone rod dystrophy.
PharmGKB	PA33005.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG286214.
HOGENOM	HOG000082675.
HOVERGEN	HBG101964.
InParanoid	Q96JP9.
KO	K16501.
OMA	TFWRNKK.
PhylomeDB	Q96JP9.
Gene expression databases
ArrayExpress	Q96JP9.
Bgee	Q96JP9.
CleanEx	HS_PCDH21.
Genevestigator	Q96JP9.
Family and domain databases
Gene3D	2.60.40.60. 6 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. [Graphical view]
Pfam	PF00028. Cadherin. 5 hits. [Graphical view]
PRINTS	PR00205. CADHERIN.
SMART	SM00112. CA. 6 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 6 hits.
PROSITE	PS00232. CADHERIN_1. 2 hits. PS50268. CADHERIN_2. 6 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	92211.
NextBio	77634.
SOURCE	Search...

Entry information

Entry name

CDHR1_HUMAN

Accession

Primary (citable) accession number: Q96JP9
Secondary accession number(s): Q69YZ8, Q8IXY5

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 5, 2008
Last sequence update:	February 5, 2008
Last modified:	May 29, 2013
This is version 87 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.