Q8N8Q1 (C56D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cytochrome b561 domain-containing protein 1

Gene names

Name:

CYB561D1

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

General annotation (Comments)

Cofactor	Binds 2 heme groups non-covalently By similarity.
Subcellular location	Membrane; Multi-pass membrane protein Probable.
Sequence similarities	Contains 1 cytochrome b561 domain.

Ontologies

Keywords
Biological process	Electron transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Ligand	Heme Iron Metal-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	electron transport chain Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q8N8Q1-1)

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: Q8N8Q1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     50-133: SLFSWHPVFM...VSWHSWVGAL → KTGPLMEDRS...GSGSTGQGRP
     134-229: Missing.

Isoform 3 (identifier: Q8N8Q1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     50-62: SLFSWHPVFMALA → KTGPLMEDRSEGGRARWVMPEIPALWEADAGGSLE

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 229	229	Cytochrome b561 domain-containing protein 1		PRO_0000151034
Regions
	Topological domain	1 – 24	24	Cytoplasmic Potential
	Transmembrane	25 – 45	21	Helical; Potential
	Transmembrane	54 – 74	21	Helical; Potential
	Transmembrane	92 – 112	21	Helical; Potential
	Transmembrane	129 – 149	21	Helical; Potential
	Transmembrane	170 – 190	21	Helical; Potential
	Transmembrane	194 – 214	21	Helical; Potential
	Topological domain	215 – 229	15	Cytoplasmic Potential
	Domain	22 – 224	203	Cytochrome b561
Sites
	Metal binding	55	1	Iron (heme axial ligand) Potential
	Metal binding	93	1	Iron (heme axial ligand) Potential
	Metal binding	127	1	Iron (heme axial ligand) Potential
	Metal binding	166	1	Iron (heme axial ligand) Potential
Natural variations
	Alternative sequence	50 – 133	84	SLFSW…WVGAL → KTGPLMEDRSEGGRARWVMP EIPALWEADAGGSLEVFSPG TLYSWPWRSASAWLKPSYSS HLNTPCSSSAPEKHGSGSTG QGRP in isoform 2.		VSP_038649
	Alternative sequence	50 – 62	13	SLFSW…FMALA → KTGPLMEDRSEGGRARWVMP EIPALWEADAGGSLE in isoform 3.		VSP_041162
	Alternative sequence	134 – 229	96	Missing in isoform 2.		VSP_038650

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 43978DAF7D8EC218	FASTA	229	25,424
	10 20 30 40 50 60 MQPLEVGLVP APAGEPRLTR WLRRGSGILA HLVALGFTIF LTALSRPGTS LFSWHPVFMA 70 80 90 100 110 120 LAFCLCMAEA ILLFSPEHSL FFFCSRKARI RLHWAGQTLA ILCAALGLGF IISSRTRSEL 130 140 150 160 170 180 PHLVSWHSWV GALTLLATAV QALCGLCLLC PRAARVSRVA RLKLYHLTCG LVVYLMATVT 190 200 210 220 VLLGMYSVWF QAQIKGAAWY LCLALPVYPA LVIMHQISRS YLPRKKMEM
	Isoform 2 [UniParc]. Checksum: 60B7E9CE48574852	FASTA	133	14,251
	10 20 30 40 50 60 MQPLEVGLVP APAGEPRLTR WLRRGSGILA HLVALGFTIF LTALSRPGTK TGPLMEDRSE 70 80 90 100 110 120 GGRARWVMPE IPALWEADAG GSLEVFSPGT LYSWPWRSAS AWLKPSYSSH LNTPCSSSAP 130 EKHGSGSTGQ GRP
	Isoform 3 [UniParc]. Checksum: 9F8B854A243A1492	FASTA	251	27,731
	10 20 30 40 50 60 MQPLEVGLVP APAGEPRLTR WLRRGSGILA HLVALGFTIF LTALSRPGTK TGPLMEDRSE 70 80 90 100 110 120 GGRARWVMPE IPALWEADAG GSLEFCLCMA EAILLFSPEH SLFFFCSRKA RIRLHWAGQT 130 140 150 160 170 180 LAILCAALGL GFIISSRTRS ELPHLVSWHS WVGALTLLAT AVQALCGLCL LCPRAARVSR 190 200 210 220 230 240 VARLKLYHLT CGLVVYLMAT VTVLLGMYSV WFQAQIKGAA WYLCLALPVY PALVIMHQIS 250 RSYLPRKKME M

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] (ISOFORMS 1; 2 AND 3). Tissue: Brain.
[2]	"Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes." Kimura K., Wakamatsu A., Suzuki Y., Ota T., Nishikawa T., Yamashita R., Yamamoto J., Sekine M., Tsuritani K., Wakaguri H., Ishii S., Sugiyama T., Saito K., Isono Y., Irie R., Kushida N., Yoneyama T., Otsuka R. , Kanda K., Yokoi T., Kondo H., Wagatsuma M., Murakawa K., Ishida S., Ishibashi T., Takahashi-Fujii A., Tanase T., Nagai K., Kikuchi H., Nakai K., Isogai T., Sugano S. Genome Res. 16:55-65(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"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].
[4]	"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 1). Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK096354 mRNA. Translation: BAC04767.1. AK294992 mRNA. Translation: BAG58058.1. DA092655 mRNA. No translation available. AL355145 Genomic DNA. Translation: CAI22940.1. AL355145 Genomic DNA. Translation: CAI22941.1. BC093683 mRNA. Translation: AAH93683.1. BC111999 mRNA. Translation: AAI12000.1.
IPI	IPI00167530. IPI00515012. IPI00909405.
RefSeq	NP_001127872.1. NM_001134400.1. NP_001127875.1. NM_001134403.1. NP_872386.1. NM_182580.2.
UniGene	Hs.514682.
3D structure databases
ProteinModelPortal	Q8N8Q1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000358884.
PTM databases
PhosphoSite	Q8N8Q1.
Polymorphism databases
DMDM	67462193.
Proteomic databases
PRIDE	Q8N8Q1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310611; ENSP00000309324; ENSG00000174151. ENST00000369868; ENSP00000358884; ENSG00000174151. ENST00000420578; ENSP00000413530; ENSG00000174151.
GeneID	284613.
KEGG	hsa:284613.
UCSC	uc001dxu.3. human. uc010ovm.2. human. uc010ovo.2. human.
Organism-specific databases
CTD	284613.
GeneCards	GC01P110036.
HGNC	HGNC:26804. CYB561D1.
HPA	HPA027028.
neXtProt	NX_Q8N8Q1.
PharmGKB	PA134872038.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG74881.
HOGENOM	HOG000008685.
HOVERGEN	HBG050754.
InParanoid	Q8N8Q1.
OMA	YSVWFQA.
PhylomeDB	Q8N8Q1.
Gene expression databases
ArrayExpress	Q8N8Q1.
Bgee	Q8N8Q1.
CleanEx	HS_CYB561D1.
Genevestigator	Q8N8Q1.
GermOnline	ENSG00000174151. Homo sapiens.
Family and domain databases
InterPro	IPR006593. Cyt_b561/ferric_Rdtase_TM. IPR004877. Cyt_b561_euk. [Graphical view]
Pfam	PF03188. Cytochrom_B561. 1 hit. [Graphical view]
SMART	SM00665. B561. 1 hit. [Graphical view]
PROSITE	PS50939. CYTOCHROME_B561. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	284613.
NextBio	95003.

Entry information

Entry name

C56D1_HUMAN

Accession

Primary (citable) accession number: Q8N8Q1
Secondary accession number(s): B4DH97, Q52M36, Q5T6C2

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2005
Last sequence update:	October 1, 2002
Last modified:	April 3, 2013
This is version 82 of the entry and version 1 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.