Q8N3F0 (CG041_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
UPF0452 protein C7orf41

Alternative name(s):
Protein Ells1

Gene names

Name:

C7orf41

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

General annotation (Comments)

Sequence similarities

Belongs to the UPF0452 family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
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: Q8N3F0-1)

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: Q8N3F0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     95-131: PLLGLPDADDDAFEEYSADVEEEEPEADHPQMGVSQQ → GLISAVHALPVETWLFFVLWQTGALEVVYV

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8N3F0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-54: MDFQQLADVAEKWCSNTPFELIATEETERRMDFYADPGVSFYVLCPDNGCGDNF → MATHCPLYCVGADLMMNRAGE

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 131	131	UPF0452 protein C7orf41		PRO_0000294233
Regions
	Compositional bias	115 – 120	6	Poly-Glu
Natural variations
	Alternative sequence	1 – 54	54	MDFQQ…CGDNF → MATHCPLYCVGADLMMNRAG E in isoform 3.		VSP_026608
	Alternative sequence	95 – 131	37	PLLGL…GVSQQ → GLISAVHALPVETWLFFVLW QTGALEVVYV in isoform 2.		VSP_026609
Experimental info
	Sequence conflict	82	1	L → P in BAC04811. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 13, 2004. Version 2. Checksum: BD60297F085B5C59	FASTA	131	14,925
	10 20 30 40 50 60 MDFQQLADVA EKWCSNTPFE LIATEETERR MDFYADPGVS FYVLCPDNGC GDNFHVWSES 70 80 90 100 110 120 EDCLPFLQLA QDYISSCGKK TLHEVLEKVF KSFRPLLGLP DADDDAFEEY SADVEEEEPE 130 ADHPQMGVSQ Q
	Isoform 2 [UniParc]. Checksum: 3B6E4F858C4ADE6B	FASTA	124	14,210
	10 20 30 40 50 60 MDFQQLADVA EKWCSNTPFE LIATEETERR MDFYADPGVS FYVLCPDNGC GDNFHVWSES 70 80 90 100 110 120 EDCLPFLQLA QDYISSCGKK TLHEVLEKVF KSFRGLISAV HALPVETWLF FVLWQTGALE VVYV
	Isoform 3 [UniParc]. Checksum: 57FD332B2474E7E1	FASTA	98	11,021
	10 20 30 40 50 60 MATHCPLYCV GADLMMNRAG EHVWSESEDC LPFLQLAQDY ISSCGKKTLH EVLEKVFKSF 70 80 90 RPLLGLPDAD DDAFEEYSAD VEEEEPEADH PQMGVSQQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A high-resolution 5.0-Megabase transcript map of the CMT2D region on human chromosome 7." Ellsworth R.E., Lee Lin S.-Q., Green E.D. Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[2]	"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] (ISOFORMS 1 AND 2). Tissue: Brain.
[3]	"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] (ISOFORM 1). Tissue: Amygdala.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY054121 mRNA. Translation: AAL14866.1. AK096533 mRNA. Translation: BAC04811.1. AK098769 mRNA. Translation: BAC05408.1. AL834391 mRNA. Translation: CAD39053.2.
IPI	IPI00166546. IPI00168785. IPI00853183.
RefSeq	NP_690006.2. NM_152793.2.
UniGene	Hs.200100.
3D structure databases
ProteinModelPortal	Q8N3F0.
ModBase	Search...
PTM databases
PhosphoSite	Q8N3F0.
Polymorphism databases
DMDM	74714835.
Proteomic databases
PaxDb	Q8N3F0.
PRIDE	Q8N3F0.
Protocols and materials databases
DNASU	222166.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000324453; ENSP00000324204; ENSG00000180354. ENST00000324489; ENSP00000324755; ENSG00000180354. ENST00000415604; ENSP00000387585; ENSG00000180354. ENST00000455738; ENSP00000389035; ENSG00000180354.
GeneID	222166.
KEGG	hsa:222166.
UCSC	uc003tar.1. human.
Organism-specific databases
CTD	222166.
GeneCards	GC07P030141.
H-InvDB	HIX0006564.
HGNC	HGNC:25457. C7orf41.
HPA	HPA029507.
neXtProt	NX_Q8N3F0.
PharmGKB	PA147358571.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39592.
HOGENOM	HOG000069946.
HOVERGEN	HBG107664.
InParanoid	Q8N3F0.
OMA	TDNFHVW.
OrthoDB	EOG47D9HH.
Gene expression databases
ArrayExpress	Q8N3F0.
Bgee	Q8N3F0.
CleanEx	HS_C7orf41.
Genevestigator	Q8N3F0.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	C7orf41. human.
GenomeRNAi	222166.
NextBio	91556.

Entry information

Entry name

CG041_HUMAN

Accession

Primary (citable) accession number: Q8N3F0
Secondary accession number(s): Q8N791, Q8N8M4, Q8NEX2

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 10, 2007
Last sequence update:	September 13, 2004
Last modified:	April 3, 2013
This is version 65 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.