O75127 (PTCD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pentatricopeptide repeat-containing protein 1

Gene names

Name:	PTCD1
Synonyms:	KIAA0632

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	700 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities	Contains 9 PPR (pentatricopeptide) repeats.
Sequence caution	The sequence BAA31607.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 700	700	Pentatricopeptide repeat-containing protein 1		PRO_0000097089
Regions
	Repeat	135 – 171	37	PPR 1
	Repeat	172 – 206	35	PPR 2
	Repeat	207 – 245	39	PPR 3
	Repeat	246 – 280	35	PPR 4
	Repeat	281 – 317	37	PPR 5
	Repeat	318 – 354	37	PPR 6
	Repeat	519 – 553	35	PPR 7
	Repeat	554 – 585	32	PPR 8
	Repeat	586 – 620	35	PPR 9
Natural variations
	Natural variant	356	1	P → L. Corresponds to variant rs34714513 [ dbSNP | Ensembl ].		VAR_052936
	Natural variant	620	1	V → G. Corresponds to variant rs35633728 [ dbSNP | Ensembl ].		VAR_052937
Experimental info
	Sequence conflict	505	1	S → F in AAH80580. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	O75127 [UniParc]. Last modified March 29, 2005. Version 2. Checksum: E5075DC65C3D40E0	FASTA	700	78,856
	10 20 30 40 50 60 MDFVRLARLF ARARPMGLFI LQHLDPCRAR WAGGREGLMR PMWAPFSSSS SQLPLGQERQ 70 80 90 100 110 120 ENTGSLGSDP SHSNSTATQE EDEEEEESFG TLSDKYSSRR LFRKSAAQFH NLRFGERRDE 130 140 150 160 170 180 QMEPEPKLWR GRRNTPYWYF LQCKHLIKEG KLVEALDLFE RQMLKEERLQ PMESNYTVLI 190 200 210 220 230 240 GGCGRVGYLK KAFNLYNQMK KRDLEPSDAT YTALFNVCAE SPWKDSALQS ALKLRQQLQA 250 260 270 280 290 300 KNFELNLKTY HALLKMAAKC ADLRMCLDVF KEIIHKGHVV TEETFSFLLM GCIQDKKTGF 310 320 330 340 350 360 RYALQVWRLM LSLGLQPSRD SYNLLLVAAR DCGLGDPQVA SELLLKPREE ATVLQPPVSR 370 380 390 400 410 420 QRPRRTAQAK AGNLMSAMLH VEALERQLFL EPSQALGPPE PPEARVPGKA QPEVDTKAEP 430 440 450 460 470 480 SHTAALTAVA LKPPPVELEV NLLTPGAVPP TVVSFGTVTT PADRLALIGG LEGFLSKMAE 490 500 510 520 530 540 HRQQPDIRTL TLLAEVVESG SPAESLLLAL LDEHQVEADL TFFNTLVRKK SKLGDLEGAK 550 560 570 580 590 600 ALLPVLAKRG LVPNLQTFCN LAIGCHRPKD GLQLLTDMKK SQVTPNTHIY SALINAAIRK 610 620 630 640 650 660 LNYTYLISIL KDMKQNRVPV NEVVIRQLEF AAQYPPTFDR YQGKNTYLEK IDGFRAYYKQ 670 680 690 700 WLTVMPAEET PHPWQKFRTK PQGDQDTGKE ADDGCALGGR

References

[1]	"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed: 9734811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Ovary and Placenta.
[3]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB014532 mRNA. Translation: BAA31607.1. Different initiation. BC003688 mRNA. Translation: AAH03688.2. BC080580 mRNA. Translation: AAH80580.1. BC103502 mRNA. Translation: AAI03503.1.
IPI	IPI00171925.
PIR	T00383.
RefSeq	NP_056360.2. NM_015545.3.
UniGene	Hs.632313.
3D structure databases
ProteinModelPortal	O75127.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75127. 1 interaction.
STRING	O75127.
Proteomic databases
PRIDE	O75127.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000292478; ENSP00000292478; ENSG00000106246. ENST00000413834; ENSP00000400168; ENSG00000248919. ENST00000422429; ENSP00000413089; ENSG00000106246.
GeneID	26024.
KEGG	hsa:26024.
UCSC	uc003uqh.1. human.
Organism-specific databases
CTD	26024.
GeneCards	GC07M099014. GC07M099018.
HGNC	HGNC:22198. PTCD1.
HPA	HPA020106.
neXtProt	NX_O75127.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG506880.
HOVERGEN	HBG053748.
InParanoid	O75127.
OrthoDB	EOG44F691.
Gene expression databases
ArrayExpress	O75127.
Bgee	O75127.
CleanEx	HS_PTCD1.
Genevestigator	O75127.
GermOnline	ENSG00000106246. Homo sapiens.
Family and domain databases
InterPro	IPR002885. Pentatricopeptide_repeat. [Graphical view]
Pfam	PF01535. PPR. 2 hits. [Graphical view]
TIGRFAMs	TIGR00756. PPR. 1 hit.
PROSITE	PS51375. PPR. 7 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	47804.

Entry information

Entry name

PTCD1_HUMAN

Accession

Primary (citable) accession number: O75127
Secondary accession number(s): Q3ZB78, Q66K60, Q9UDV2

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2005
Last sequence update:	March 29, 2005
Last modified:	January 25, 2012
This is version 76 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.