Reviewed, UniProtKB/Swiss-Prot Q96Q45 (AL2S4_HUMAN)

Names and origin

Protein names

Recommended name:
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein

Gene names

Name:

ALS2CR4

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	432 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96Q45-1)

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: Q96Q45-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-32: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 432	432	Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein		PRO_0000076169
Regions
	Transmembrane	251 – 271	21	Potential
	Transmembrane	292 – 312	21	Potential
	Transmembrane	327 – 347	21	Potential
	Transmembrane	382 – 402	21	Potential
Natural variations
	Alternative sequence	1 – 32	32	Missing in isoform 2.		VSP_016628
Experimental info
	Sequence conflict	44	1	L → I in AAH29611. Ref.4
	Sequence conflict	50	1	Q → I in AAY15056. Ref.3
	Sequence conflict	142	1	P → Q in AAH29611. Ref.4
	Sequence conflict	239	1	R → I in AAH29611. Ref.4
	Sequence conflict	285	1	L → I in AAH29611. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 102BEFC17FEF823D	FASTA	432	48,244
	10 20 30 40 50 60 MTHCACARDR AREGWGARCL GARRPPRPAK RRMGKNPVRP PRALPPVPSQ DDIPLSRPKK 70 80 90 100 110 120 KKPRTKNTPA SASLEGLAQT AGRRPSEGNE PSTKELKEHP EAPVQRRQKK TRLPLELETS 130 140 150 160 170 180 STQKKSSSSS LLRNENGIDA EPAEEAVIQK PRRKTKKTQP AELQYANELG VEDEDIITDE 190 200 210 220 230 240 QTTVEQQSVF TAPTGISQPV GKVFVEKSRR FQAADRSELI KTTENIDVSM DVKPSWTTRD 250 260 270 280 290 300 VALTVHRAFR MIGLFSHGFL AGCAVWNIVV IYVLAGDQLS NLSNLLQQYK TLAYPFQSLL 310 320 330 340 350 360 YLLLALSTIS AFDRIDFAKI SVAIRNFLAL DPTALASFLY FTALILSLSQ QMTSDRIHLY 370 380 390 400 410 420 TPSSVNGSLW EAGIEEQILQ PWIVVNLVVA LLVGLSWLFL SYRPGMDLSE ELMFSSEVEE 430 YPDKEKEIKA SS
	Isoform 2. Checksum: B1CFB9BF7823402D	FASTA	400	44,599
	10 20 30 40 50 60 MGKNPVRPPR ALPPVPSQDD IPLSRPKKKK PRTKNTPASA SLEGLAQTAG RRPSEGNEPS 70 80 90 100 110 120 TKELKEHPEA PVQRRQKKTR LPLELETSST QKKSSSSSLL RNENGIDAEP AEEAVIQKPR 130 140 150 160 170 180 RKTKKTQPAE LQYANELGVE DEDIITDEQT TVEQQSVFTA PTGISQPVGK VFVEKSRRFQ 190 200 210 220 230 240 AADRSELIKT TENIDVSMDV KPSWTTRDVA LTVHRAFRMI GLFSHGFLAG CAVWNIVVIY 250 260 270 280 290 300 VLAGDQLSNL SNLLQQYKTL AYPFQSLLYL LLALSTISAF DRIDFAKISV AIRNFLALDP 310 320 330 340 350 360 TALASFLYFT ALILSLSQQM TSDRIHLYTP SSVNGSLWEA GIEEQILQPW IVVNLVVALL 370 380 390 400 VGLSWLFLSY RPGMDLSEEL MFSSEVEEYP DKEKEIKASS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2." Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. , Rouleau G.A., Hayden M.R., Ikeda J.-E. Nat. Genet. 29:166-173(2001) [PubMed: 11586298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain and Ovary.
[5]	"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: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 296-432. Tissue: Fetal skin.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB053301 mRNA. Translation: BAB69011.1. AK090601 mRNA. Translation: BAC03487.1. Different initiation. AC007279 Genomic DNA. Translation: AAY15056.1. AC007282 Genomic DNA. Translation: AAY14694.1. BC013730 mRNA. Translation: AAH13730.1. BC029611 mRNA. Translation: AAH29611.1. BX538000 mRNA. Translation: CAD97955.1.
IPI	IPI00044683. IPI00658092.
RefSeq	NP_001037850.1. NP_689601.2.
UniGene	Hs.12319
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q96Q45.
Genome annotation databases
Ensembl	ENST00000426684; ENSP00000410712; ENSG00000155755; Homo sapiens. [Genome view]
GeneID	65062.
KEGG	hsa:65062.
Organism-specific databases
CTD	65062.
GeneCards	GC02M202196.
HGNC	HGNC:14432. ALS2CR4.
PharmGKB	PA24745.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96Q45.
Gene expression databases
ArrayExpress	Q96Q45.
Bgee	Q96Q45.
CleanEx	HS_ALS2CR4.
Genevestigator	Q96Q45.
GermOnline	ENSG00000155755. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	67248.

Entry information

Entry name

AL2S4_HUMAN

Accession

Primary (citable) accession number: Q96Q45
Secondary accession number(s): Q53TS9 , Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 20, 2005
Last sequence update:	December 1, 2001
Last modified:	November 24, 2009
This is version 43 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.