AMNLS_HUMAN » Protein amnionless

AMNLS_HUMAN » Protein amnionless
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
AMNLS_HUMAN » Protein amnionless »
Hydrophobic Thickness 35.6 ± 4.6 Å
Tilt Angle 25 ± 23°
ΔGtransfer -24.2 kcal/mol
ΔGfold -17.5 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology Out
TM Segments 359-386 (356-386)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 21-447, Amnionless

UniProt annotation for AMNLS_HUMAN » Protein amnionless
FUNCTION: Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm (By similarity).

SUBUNIT: Interacts with CUBN/cubilin.

TISSUE SPECIFICITY: Long isoforms are highly expressed in small intestine, colon and kidney (renal proximal tubule epithelial cells). Shorter isoforms are detected at lower levels in testis, thymus and peripheral blood leukocytes.

DISEASE: Recessive hereditary megaloblastic anemia 1 (RH-MGA1) OMIM: Due to selective malabsorption of vitamin B12. Defects in vitamin B12 absorption lead to impaired function of thymidine synthase. As a consequence DNA synthesis is interrupted. Rapidly dividing cells involved in erythropoiesis are particularly affected. Note=The disease is caused by mutations affecting the gene represented in this entry.

MISCELLANEOUS: The mutations described in PubMed:12590260 all affect the N-terminus of the protein; shorter isoforms produced from alternative transcription start sites might still fulfill a role in embryogenesis. This might explain the discrepancy with the embryonic lethality of null mutants in mice.

UniProt features for AMNLS_HUMAN » Protein amnionless
SIGNAL 1 19 Potential.
CHAIN 20 453 Protein amnionless.
DOMAIN 202 254 VWFC.
Amino Acid Sequence for AMNLS_HUMAN » Protein amnionless
MGVLGRVLLW LQLCALTQAV SKLWVPNTDF DVAANWSQNR TPCAGGAVEF PADKMVSVLV QEGHAVSDML LPLDGELVLA SGAGFGVSDV GSHLDCGAGE PAVFRDSDRF SWHDPHLWRS GDEAPGLFFV DAERVPCRHD DVFFPPSASF RVGLGPGASP VRVRSISALG RTFTRDEDLA VFLASRAGRL RFHGPGALSV GPEDCADPSG CVCGNAEAQP WICAALLQPL GGRCPQAACH SALRPQGQCC DLCGAVVLLT HGPAFDLERY RARILDTFLG LPQYHGLQVA VSKVPRSSRL READTEIQVV LVENGPETGG AGRLARALLA DVAENGEALG VLEATMRESG AHVWGSSAAG LAGGVAAAVL LALLVLLVAP PLLRRAGRLR WRRHEAAAPA GAPLGFRNPV FDVTASEELP LPRRLSLVPK AAADSTSHSY FVNPLFAGAE AEA