Q96LP6 (CL042_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uncharacterized protein C12orf42

Gene names

Name:

C12orf42

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

Ontologies

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96LP6-1)

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: Q96LP6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96LP6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     87-107: VFPERTQNSMACKRLLHTCQY → GSHHGQATQKLQGAMVLHLEE
     108-360: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 360	360	Uncharacterized protein C12orf42		PRO_0000274274
Natural variations
	Alternative sequence	1 – 95	95	Missing in isoform 2.		VSP_022691
	Alternative sequence	87 – 107	21	VFPER…HTCQY → GSHHGQATQKLQGAMVLHLE E in isoform 3.		VSP_022692
	Alternative sequence	108 – 360	253	Missing in isoform 3.		VSP_022693
	Natural variant	11	1	E → D. Ref.1 Ref.3 Corresponds to variant rs10778257 [ dbSNP | Ensembl ].		VAR_030229
	Natural variant	182	1	P → R. Corresponds to variant rs7484376 [ dbSNP | Ensembl ].		VAR_030230
Experimental info
	Sequence conflict	38	1	A → D in BC039352. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 1935263A48633526	FASTA	360	39,738
	10 20 30 40 50 60 MSTVICMKQR EEEFLLTIRP FANRMQKSPC YIPIVSSATL WDRSTPSAKH IPCYERTSVP 70 80 90 100 110 120 CSRFINHMKN FSESPKFRSL HFLNFPVFPE RTQNSMACKR LLHTCQYIVP RCSVSTVSFD 130 140 150 160 170 180 EESYEEFRSS PAPSSETDEA PLIFTARGET EERARGAPKQ AWNSSFLEQL VKKPNWAHSV 190 200 210 220 230 240 NPVHLEAQGI HISRHTRPKG QPLSSPKKNS GSAARPSTAI GLCRRSQTPG ALQSTGPSNT 250 260 270 280 290 300 ELEPEERMAV PAGAQAHPDD IQSRLLGASG NPVGKGAVAM APEMLPKHPH TPRDRRPQAD 310 320 330 340 350 360 TSLHGNLAGA PLPLLAGAST HFPSKRLIKV CSSAPPRPTR RFHTVCSQAL SRPVVNAHLH
	Isoform 2 [UniParc]. Checksum: D5B354AAD1F5D448	FASTA	265	28,584
	10 20 30 40 50 60 MACKRLLHTC QYIVPRCSVS TVSFDEESYE EFRSSPAPSS ETDEAPLIFT ARGETEERAR 70 80 90 100 110 120 GAPKQAWNSS FLEQLVKKPN WAHSVNPVHL EAQGIHISRH TRPKGQPLSS PKKNSGSAAR 130 140 150 160 170 180 PSTAIGLCRR SQTPGALQST GPSNTELEPE ERMAVPAGAQ AHPDDIQSRL LGASGNPVGK 190 200 210 220 230 240 GAVAMAPEML PKHPHTPRDR RPQADTSLHG NLAGAPLPLL AGASTHFPSK RLIKVCSSAP 250 260 PRPTRRFHTV CSQALSRPVV NAHLH
	Isoform 3 [UniParc]. Checksum: 544BEC0EA49969F5	FASTA	107	12,366
	10 20 30 40 50 60 MSTVICMKQR EEEFLLTIRP FANRMQKSPC YIPIVSSATL WDRSTPSAKH IPCYERTSVP 70 80 90 100 CSRFINHMKN FSESPKFRSL HFLNFPGSHH GQATQKLQGA MVLHLEE

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] (ISOFORM 1), VARIANT ASP-11. Tissue: Testis.
[2]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(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] (ISOFORMS 1; 2 AND 3), VARIANT ASP-11. Tissue: Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK058052 mRNA. Translation: BAB71641.1. AC084364 Genomic DNA. No translation available. AC090000 Genomic DNA. No translation available. AC126176 Genomic DNA. No translation available. BC039352 mRNA. No translation available. BC044617 mRNA. Translation: AAH44617.1. BC117392 mRNA. Translation: AAI17393.1. BC117394 mRNA. Translation: AAI17395.1.
IPI	IPI00294828. IPI00643739. IPI00827698.
RefSeq	NP_001092806.1. NM_001099336.1. NP_940923.2. NM_198521.2.
UniGene	Hs.534649.
3D structure databases
ProteinModelPortal	Q96LP6.
ModBase	Search...
PTM databases
PhosphoSite	Q96LP6.
Proteomic databases
PaxDb	Q96LP6.
PRIDE	Q96LP6.
Protocols and materials databases
DNASU	374470.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000315192; ENSP00000324984; ENSG00000179088. ENST00000378113; ENSP00000367353; ENSG00000179088. ENST00000547347; ENSP00000446908; ENSG00000179088. ENST00000548883; ENSP00000447908; ENSG00000179088.
GeneID	374470.
KEGG	hsa:374470.
UCSC	uc001tjt.2. human.
Organism-specific databases
CTD	374470.
GeneCards	GC12M103631.
HGNC	HGNC:24729. C12orf42.
HPA	HPA039909.
neXtProt	NX_Q96LP6.
PharmGKB	PA143485372.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39516.
HOGENOM	HOG000169664.
HOVERGEN	HBG081237.
InParanoid	Q96LP6.
OMA	STAIGLC.
PhylomeDB	Q96LP6.
Gene expression databases
ArrayExpress	Q96LP6.
Bgee	Q96LP6.
CleanEx	HS_C12orf42.
Genevestigator	Q96LP6.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	374470.
NextBio	100205.

Entry information

Entry name

CL042_HUMAN

Accession

Primary (citable) accession number: Q96LP6
Secondary accession number(s): Q49A64, Q4G0S2

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 6, 2007
Last sequence update:	May 18, 2010
Last modified:	April 3, 2013
This is version 59 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.