Q8NAX2 (CA172_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uncharacterized protein C1orf172

Gene names

Name:

C1orf172

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	398 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence caution

The sequence AAH33143.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
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 – 398	398	Uncharacterized protein C1orf172		PRO_0000289048
Regions
	Compositional bias	2 – 55	54	Pro-rich
	Compositional bias	74 – 112	39	Cys-rich
Natural variations
	Natural variant	100	1	Q → R. Corresponds to variant rs17360994 [ dbSNP | Ensembl ].		VAR_032561
	Natural variant	107	1	R → W. Corresponds to variant rs3010109 [ dbSNP | Ensembl ].		VAR_032562
	Natural variant	189	1	K → R. Corresponds to variant rs34291506 [ dbSNP | Ensembl ].		VAR_032563
	Natural variant	312	1	R → H in a colorectal cancer sample; somatic mutation. Ref.4		VAR_035616
Experimental info
	Sequence conflict	150	1	R → Q in BAC03775. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q8NAX2 [UniParc]. Last modified May 29, 2007. Version 2. Checksum: BFD4D537D2F2A8D2	FASTA	398	43,642
	10 20 30 40 50 60 MPRPGHPRPA SGPPRLGPWE RPTELCLETY DKPPQPPPSR RTRRPDPKDP GHHGPESITF 70 80 90 100 110 120 ISGSAEPALE SPTCCLLWRP WVWEWCRAAF CFRRCRDCLQ RCGACVRGCS PCLSTEDSTE 130 140 150 160 170 180 GTAEANWAKE HNGVPPSPDR APPSRRDGQR LKSTMGSSFS YPDVKLKGIP VYPYPRATSP 190 200 210 220 230 240 APDADSCCKE PLADPPPMRH SLPSTFASSP RGSEEYYSFH ESDLDLPEMG SGSMSSREID 250 260 270 280 290 300 VLIFKKLTEL FSVHQIDELA KCTSDTVFLE KTSKISDLIS SITQDYHLDE QDAEGRLVRG 310 320 330 340 350 360 IIRISTRKSR ARPQTSEGRS TRAAAPTAAA PDSGHETMVG SGLSQDELTV QISQETTADA 370 380 390 IARKLRPYGA PGYPASHDSS FQGTDTDSSG APLLQVYC

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] OF 27-398. Tissue: Placenta.
[4]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-312.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK091952 mRNA. Translation: BAC03775.1. AL356390 Genomic DNA. Translation: CAI13559.1. BC033143 mRNA. Translation: AAH33143.1. Different initiation.
IPI	IPI00168162.
RefSeq	NP_689578.2. NM_152365.2.
UniGene	Hs.188881.
3D structure databases
ProteinModelPortal	Q8NAX2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000319179.
PTM databases
PhosphoSite	Q8NAX2.
Polymorphism databases
DMDM	152125836.
Proteomic databases
PaxDb	Q8NAX2.
PRIDE	Q8NAX2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320567; ENSP00000319179; ENSG00000175707.
GeneID	126695.
KEGG	hsa:126695.
UCSC	uc001bni.2. human.
Organism-specific databases
CTD	126695.
GeneCards	GC01M027276.
H-InvDB	HIX0000322.
HGNC	HGNC:26624. C1orf172.
HPA	HPA028639. HPA028662.
neXtProt	NX_Q8NAX2.
PharmGKB	PA142672421.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45474.
HOGENOM	HOG000285955.
HOVERGEN	HBG056885.
InParanoid	Q8NAX2.
OMA	RPQTSEG.
OrthoDB	EOG44QT1N.
PhylomeDB	Q8NAX2.
Gene expression databases
Bgee	Q8NAX2.
CleanEx	HS_C1orf172.
Genevestigator	Q8NAX2.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	126695.
NextBio	81892.

Entry information

Entry name

CA172_HUMAN

Accession

Primary (citable) accession number: Q8NAX2
Secondary accession number(s): Q5QP32, Q8N0S7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	May 29, 2007
Last modified:	April 3, 2013
This is version 72 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.