Q6IPT4 (NB5R5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH-cytochrome b5 reductase-like
EC=1.6.2.2

Gene names

Name:

CYB5RL

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	315 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction By similarity.
Catalytic activity	NADH + 2 ferricytochrome b5 = NAD+ + H+ + 2 ferrocytochrome b5.
Cofactor	FAD By similarity.
Sequence similarities	Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Contains 1 FAD-binding FR-type domain.
Caution	It is uncertain whether Met-1 or Met-2 is the initiator.
Sequence caution	The sequence BAC03437.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CD515193 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	FAD Flavoprotein NAD
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	cytochrome-b5 reductase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q6IPT4-1)

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: Q6IPT4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-148: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q6IPT4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     180-247: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 315	315	NADH-cytochrome b5 reductase-like		PRO_0000337041
Regions
	Domain	75 – 177	103	FAD-binding FR-type
	Nucleotide binding	157 – 172	16	FAD By similarity
	Nucleotide binding	182 – 214	33	FAD By similarity
Natural variations
	Alternative sequence	1 – 148	148	Missing in isoform 2.		VSP_033845
	Alternative sequence	180 – 247	68	Missing in isoform 3.		VSP_040404
	Natural variant	47	1	R → K. Ref.3 Corresponds to variant rs946448 [ dbSNP | Ensembl ].		VAR_043577
Experimental info
	Sequence conflict	267	1	H → P in CD515193. Ref.3
	Sequence conflict	301	1	C → W in CD515193. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 3. Checksum: 0C1788B5980AA86E	FASTA	315	35,892
	10 20 30 40 50 60 MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLARWEA AQASKDRSLL 70 80 90 100 110 120 RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD 130 140 150 160 170 180 DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ 190 200 210 220 230 240 YGELLLLAAG TGLAPMVPIL QSITDNENDE TFVTLVGCFK TFESIYLKTF LQEQARFWNV 250 260 270 280 290 300 RTFFVLSQES SSEQLPWSYQ EKTHFGHLGQ DLIKELVSCC RRKPFALVCG SAEFTKDIAR 310 CLLCAGLTED SYFLF
	Isoform 2 [UniParc]. Checksum: 1A55B65FDE464C3E	FASTA	167	19,152
	10 20 30 40 50 60 MGLMSRYVES WRVGDTAFWR GPFGDFFYKP NQYGELLLLA AGTGLAPMVP ILQSITDNEN 70 80 90 100 110 120 DETFVTLVGC FKTFESIYLK TFLQEQARFW NVRTFFVLSQ ESSSEQLPWS YQEKTHFGHL 130 140 150 160 GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT EDSYFLF
	Isoform 3 [UniParc]. Checksum: 10C519F6DB77948A	FASTA	247	28,173
	10 20 30 40 50 60 MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLARWEA AQASKDRSLL 70 80 90 100 110 120 RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD 130 140 150 160 170 180 DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ 190 200 210 220 230 240 ESSSEQLPWS YQEKTHFGHL GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT EDSYFLF

References

[1]	"The nucleotide sequence of a long cDNA clone isolated from human spleen." Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O. Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Spleen.
[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: 16710414] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT LYS-47. Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK090456 mRNA. Translation: BAC03437.1. Different initiation. AL357673 Genomic DNA. Translation: CAX13283.1. CD515193 mRNA. No translation available.
IPI	IPI00845292. IPI00893503. IPI00929472.
RefSeq	NP_001026842.2. NM_001031672.2.
UniGene	Hs.591426.
3D structure databases
ProteinModelPortal	Q6IPT4.
SMR	Q6IPT4. Positions 70-315.
ModBase	Search...
Polymorphism databases
DMDM	189030823.
Proteomic databases
PeptideAtlas	Q8NF25.
PRIDE	Q6IPT4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000419823; ENSP00000409075; ENSG00000215883.
GeneID	606495.
KEGG	hsa:606495.
UCSC	uc001cwy.2. human.
Organism-specific databases
CTD	606495.
GeneCards	GC01M054609.
HGNC	HGNC:32220. CYB5RL.
neXtProt	NX_Q6IPT4.
PharmGKB	PA164718527.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00540000072126.
HOGENOM	HBG591994.
HOVERGEN	HBG108175.
InParanoid	Q6IPT4.
OMA	RYWNIRI.
PhylomeDB	Q6IPT4.
Gene expression databases
ArrayExpress	Q6IPT4.
Bgee	Q6IPT4.
Genevestigator	Q6IPT4.
Family and domain databases
InterPro	IPR017927. Fd_Rdtase_FAD-bd. IPR001834. NADH-Cyt_B5_reductase. IPR019180. Oxidoreductase-like_N. IPR008333. OxRdtase_FAD-bd_dom. IPR001433. OxRdtase_FAD/NAD-bd. IPR017938. Riboflavin_synthase-like_b-brl. [Graphical view]
Pfam	PF00970. FAD_binding_6. 1 hit. PF00175. NAD_binding_1. 1 hit. PF09791. Oxidored-like. 1 hit. [Graphical view]
PRINTS	PR00406. CYTB5RDTASE.
SUPFAM	SSF63380. Riboflavin_synthase_like_b-brl. 1 hit.
PROSITE	PS51384. FAD_FR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	112803.

Entry information

Entry name

NB5R5_HUMAN

Accession

Primary (citable) accession number: Q6IPT4
Secondary accession number(s): B7ZBS4, Q8NF25

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	January 11, 2011
Last modified:	January 25, 2012
This is version 63 of the entry and version 3 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.