Q5XKR9 (F104B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein FAM104B

Gene names

Name:	FAM104B
Synonyms:	CXorf44

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

General annotation (Comments)

Sequence similarities

Belongs to the FAM104 family.

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: Q5XKR9-1)

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: Q5XKR9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     40-40: E → EV

Isoform 3 (identifier: Q5XKR9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     40-40: E → EV
     85-115: LSKPVYVINWFMSFGPEIKLNTSQQGRNQAV → YVPCQGLYSHINQTLKEAHFNSLQQRGQAPT

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 115	115	Protein FAM104B		PRO_0000239034
Natural variations
	Alternative sequence	40	1	E → EV in isoform 2 and isoform 3.		VSP_019078
	Alternative sequence	85 – 115	31	LSKPV…RNQAV → YVPCQGLYSHINQTLKEAHF NSLQQRGQAPT in isoform 3.		VSP_019079
	Natural variant	60	1	S → G. Corresponds to variant rs1047037 [ dbSNP | Ensembl ].		VAR_055796

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 23, 2004. Version 1. Checksum: 44F92B3FDDC77CDB	FASTA	115	13,109
	10 20 30 40 50 60 MGGCPVRKRR RNGSKEGNHH STQPKRNKRN PIFQDSQDTE FSWSDNERSS SRINIPERAS 70 80 90 100 110 GPEGNLNQIV TEPDANFPQF LHEGLSKPVY VINWFMSFGP EIKLNTSQQG RNQAV
	Isoform 2 [UniParc]. Checksum: 1DB4AC79F2EED1B0	FASTA	116	13,209
	10 20 30 40 50 60 MGGCPVRKRR RNGSKEGNHH STQPKRNKRN PIFQDSQDTE VFSWSDNERS SSRINIPERA 70 80 90 100 110 SGPEGNLNQI VTEPDANFPQ FLHEGLSKPV YVINWFMSFG PEIKLNTSQQ GRNQAV
	Isoform 3 [UniParc]. Checksum: 570D92AB058DCFBE	FASTA	116	13,185
	10 20 30 40 50 60 MGGCPVRKRR RNGSKEGNHH STQPKRNKRN PIFQDSQDTE VFSWSDNERS SSRINIPERA 70 80 90 100 110 SGPEGNLNQI VTEPDANFPQ FLHEGYVPCQ GLYSHINQTL KEAHFNSLQQ RGQAPT

References

[1]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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] (ISOFORMS 1 AND 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-115 (ISOFORM 3). Tissue: Bone marrow, Lung and Placenta.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL590240 Genomic DNA. Translation: CAI39881.1. CH471154 Genomic DNA. Translation: EAW93218.1. BC000919 mRNA. Translation: AAH00919.2. BC006406 mRNA. Translation: AAH06406.2. BC017571 mRNA. Translation: AAH17571.1.
IPI	IPI00395485. IPI00759656. IPI00759746.
RefSeq	NP_001160171.1. NM_001166699.1. NP_001160172.1. NM_001166700.1. NP_001160174.1. NM_001166702.1. NP_612371.2. NM_138362.3.
UniGene	Hs.415414.
3D structure databases
ProteinModelPortal	Q5XKR9.
ModBase	Search...
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000358460; ENSP00000364101; ENSG00000182518.
GeneID	90736.
KEGG	hsa:90736.
UCSC	uc004dug.1. human. uc004duh.1. human. uc004dui.2. human.
Organism-specific databases
CTD	90736.
GeneCards	GC0XM055186.
HGNC	HGNC:25085. FAM104B.
neXtProt	NX_Q5XKR9.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG21137.
GeneTree	ENSGT00390000001055.
HOVERGEN	HBG059882.
OMA	NQIVTEP.
OrthoDB	EOG454910.
Gene expression databases
ArrayExpress	Q5XKR9.
Bgee	Q5XKR9.
CleanEx	HS_FAM104B.
Genevestigator	Q5XKR9.
GermOnline	ENSG00000182518. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	76943.

Entry information

Entry name

F104B_HUMAN

Accession

Primary (citable) accession number: Q5XKR9
Secondary accession number(s): A6NEH1, Q8WVU5, Q9BRA1

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2006
Last sequence update:	November 23, 2004
Last modified:	January 25, 2012
This is version 51 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.